[ { "id": "Q15652-1.1847.1847", "start_pos": 1847, "end_pos": 1847, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VKKDAKIAWKRAVRGVREMC", "down_seq": "ACEATLFNIHWVCQKCGFVV", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAC->NAC).", "chr_id": "10", "chr_pos": "63197516", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1847", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15652-1.1843.1843", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.1878.1878", "start_pos": 1878, "end_pos": 1878, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1333266156", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333266156", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1333266156", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333266156#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1333266156", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333266156", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "WVCQKCGFVVCLDCYKAKER", "down_seq": "SSRDKELYAWMKCVKGQPHD", "snv": [ { "evidence": [ { "id": "rs1333266156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333266156" }, { "id": "rs1333266156", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333266156#frequency_tab" }, { "id": "rs1333266156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333266156" } ], "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": "10", "chr_pos": "63197421", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1878", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15652-1.1880.1880", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.1880.1880", "start_pos": 1880, "end_pos": 1880, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CQKCGFVVCLDCYKAKERKS", "down_seq": "RDKELYAWMKCVKGQPHDHK", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "63197416", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1880", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15652-1.1878.1878", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.1947.1947", "start_pos": 1947, "end_pos": 1947, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YGIKSHCHCTNKQNLQVGNF", "down_seq": "TMNGVSQVLQNVLNHSNKIS", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "10", "chr_pos": "63193368", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1947", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.1979.1979", "start_pos": 1979, "end_pos": 1979, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VLNHSNKISLCMPESQQQNT", "down_seq": "PKSEKNGGSSPESDVGTDNK", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "10", "chr_pos": "63193079", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1979", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q15652-1.1989.1989", "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": "Q15652-1.2124.2124", "start_pos": 2124, "end_pos": 2124, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1844489724", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844489724", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1844489724", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1844489724#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1844489724", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1844489724", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TMPNILDDIIASVVENKIPP", "down_seq": "KTSKINVKPELKEEPEESII", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" }, { "id": "rs1844489724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844489724" }, { "id": "rs1844489724", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1844489724#frequency_tab" }, { "id": "rs1844489724", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1844489724" } ], "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 (SKT->NKT).", "chr_id": "10", "chr_pos": "63189367", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2124", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q15652-1.2125.2125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2125.2125", "start_pos": 2125, "end_pos": 2125, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1411060924", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411060924", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1411060924", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411060924", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MPNILDDIIASVVENKIPPS", "down_seq": "TSKINVKPELKEEPEESIIS", "snv": [ { "evidence": [ { "id": "rs1411060924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411060924" }, { "id": "rs1411060924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411060924" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "10", "chr_pos": "63189363", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2125", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q15652-1.2124.2124", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2152.2152", "start_pos": 2152, "end_pos": 2152, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KPELKEEPEESIISAVDENN", "down_seq": "LYSDIPHSWICEKHILWLKD", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNK->NNT).", "chr_id": "10", "chr_pos": "63189283", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K2152", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2204.2204", "start_pos": 2204, "end_pos": 2204, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746532715", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746532715", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746532715", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746532715", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746532715", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746532715", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1346420973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346420973", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1346420973", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346420973#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1346420973", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346420973", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ECWKQGQPAVVSGVHKKMNI", "down_seq": "LWKAESISLDFGDHQADLLN", "snv": [ { "evidence": [ { "id": "rs746532715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746532715" }, { "id": "rs746532715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746532715" }, { "id": "rs746532715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746532715" } ], "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 (NIS->NIG).", "chr_id": "10", "chr_pos": "63186344", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346420973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346420973" }, { "id": "rs1346420973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346420973#frequency_tab" }, { "id": "rs1346420973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346420973" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->NII).", "chr_id": "10", "chr_pos": "63186343", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2204", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15652-1.2202.2202", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15652-1.2208.2208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q15652-1.2208.2208", "start_pos": 2208, "end_pos": 2208, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QGQPAVVSGVHKKMNISLWK", "down_seq": "ESISLDFGDHQADLLNCKDS", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "63186331", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2208", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q15652-1.2202.2202", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15652-1.2204.2204", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2234.2234", "start_pos": 2234, "end_pos": 2234, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1040108326", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040108326", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1040108326", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1040108326#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1040108326", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1040108326", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DFGDHQADLLNCKDSIISNA", "down_seq": "VKEFWDGFEEVSKRQKNKSG", "snv": [ { "evidence": [ { "id": "rs1040108326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040108326" }, { "id": "rs1040108326", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1040108326#frequency_tab" }, { "id": "rs1040108326", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1040108326" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "10", "chr_pos": "63186253", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2234", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15652-1.2236.2236", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2236.2236", "start_pos": 2236, "end_pos": 2236, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs370493099", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370493099", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370493099", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370493099", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370493099", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370493099#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370493099", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370493099", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GDHQADLLNCKDSIISNANV", "down_seq": "EFWDGFEEVSKRQKNKSGET", "snv": [ { "evidence": [ { "id": "rs370493099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370493099" }, { "id": "rs370493099", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370493099" }, { "id": "rs370493099", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370493099#frequency_tab" }, { "id": "rs370493099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370493099" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVK->NVT).", "chr_id": "10", "chr_pos": "63186247", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2236", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15652-1.2234.2234", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2300.2300", "start_pos": 2300, "end_pos": 2300, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1300075142", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300075142", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1300075142", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300075142#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1300075142", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300075142", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DLLKSLPLPEYCNPEGKFNL", "down_seq": "SHLPGFFVRPDLGPRLCSAY", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" }, { "id": "rs1300075142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300075142" }, { "id": "rs1300075142", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300075142#frequency_tab" }, { "id": "rs1300075142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300075142" } ], "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 (NLA->NLT).", "chr_id": "10", "chr_pos": "63184671", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2300", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15652-1.2284.2284", "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": "Q15652-1.2357.2357", "start_pos": 2357, "end_pos": 2357, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs368678718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368678718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368678718", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368678718", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs368678718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368678718", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs368678718", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368678718#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs368678718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368678718", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IEVSDVVNILVYVGIAKGNG", "down_seq": "LSKAGILKKFEEEDLDDILR", "snv": [ { "evidence": [ { "id": "rs368678718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368678718" }, { "id": "rs368678718", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368678718" }, { "id": "rs368678718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368678718" }, { "id": "rs368678718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368678718#frequency_tab" }, { "id": "rs368678718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368678718" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGI->NGS).", "chr_id": "10", "chr_pos": "63183461", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2357", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2381.2381", "start_pos": 2381, "end_pos": 2381, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AGILKKFEEEDLDDILRKRL", "down_seq": "DSSEIPGALWHIYAGKDVDK", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "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": "10", "chr_pos": "63177798", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2381", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2436.2436", "start_pos": 2436, "end_pos": 2436, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EVLPEHDPIRDQSWYVNKKL", "down_seq": "QRLLEEYGVRTCTLIQFLGD", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "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": "63176392", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2436", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.2531.2531", "start_pos": 2531, "end_pos": 2531, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QVKNILYHAVKEMVRALKIH", "down_seq": "DEVEDMEEN", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "63168077", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2531", "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:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1847889119", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1847889119", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1847889119", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1847889119#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1847889119", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1847889119", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MVQMTFLDDVVHSLLKGENI", "down_seq": "ITSRRRSRANQNVNAVHSHY", "snv": [ { "evidence": [ { "id": "rs1847889119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1847889119" }, { "id": "rs1847889119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1847889119#frequency_tab" }, { "id": "rs1847889119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1847889119" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIG->NIS).", "chr_id": "10", "chr_pos": "63215606", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G257", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q15652-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15652-1.277.277", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2492801406", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492801406", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SLLKGENIGITSRRRSRANQ", "down_seq": "VNAVHSHYTRAQANSPRPAM", "snv": [ { "evidence": [ { "id": "rs2492801406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492801406" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "10", "chr_pos": "63215569", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N269", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15652-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15652-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15652-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15652-1.285.285", "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": "Q15652-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764821897", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764821897", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764821897", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764821897", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764821897", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764821897#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764821897", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764821897", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LKGENIGITSRRRSRANQNV", "down_seq": "AVHSHYTRAQANSPRPAMNS", "snv": [ { "evidence": [ { "id": "rs764821897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764821897" }, { "id": "rs764821897", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764821897" }, { "id": "rs764821897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764821897#frequency_tab" }, { "id": "rs764821897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764821897" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "10", "chr_pos": "63215563", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N271", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15652-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15652-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15652-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.285.285", "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": "Q15652-1.277.277", "start_pos": 277, "end_pos": 277, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GITSRRRSRANQNVNAVHSH", "down_seq": "TRAQANSPRPAMNSQAAVPK", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "10", "chr_pos": "63215449", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y277", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15652-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15652-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15652-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15652-1.285.285", "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": 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": "Q15652-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767519332", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767519332", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767519332", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767519332", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767519332", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767519332", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RANQNVNAVHSHYTRAQANS", "down_seq": "RPAMNSQAAVPKQNTHQQQQ", "snv": [ { "evidence": [ { "id": "rs767519332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767519332" }, { "id": "rs767519332", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767519332" }, { "id": "rs767519332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767519332" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "10", "chr_pos": "63215425", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P285", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15652-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15652-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15652-1.277.277", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs553158711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553158711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs553158711", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553158711", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs553158711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553158711", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs553158711", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553158711", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VPKQNTHQQQQQRSIRPNKR", "down_seq": "GSDSSIPDEEKMKEEKYDYI", "snv": [ { "evidence": [ { "id": "rs553158711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553158711" }, { "id": "rs553158711", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553158711" }, { "id": "rs553158711", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553158711" }, { "id": "rs553158711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553158711" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "10", "chr_pos": "63215333", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K315", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15652-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15652-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15652-1.320.320", "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": "Q15652-1.365.365", "start_pos": 365, "end_pos": 365, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780980129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780980129", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780980129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780980129", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780980129", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780980129", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NKHLMNKRRKPEEDEKKLNM", "down_seq": "RLRTDNVSDFSESSDSENSN", "snv": [ { "evidence": [ { "id": "rs780980129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780980129" }, { "id": "rs780980129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780980129" }, { "id": "rs780980129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780980129" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMK->NMT).", "chr_id": "10", "chr_pos": "63215073", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K365", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q15652-1.373.373", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.376.376", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15652-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15652-1.385.385", "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": "Q15652-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2492790448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492790448", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KRLRTDNVSDFSESSDSENS", "down_seq": "KRIIDNSSEQKPENELKNKN", "snv": [ { "evidence": [ { "id": "rs2492790448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492790448" } ], "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": "10", "chr_pos": "63215013", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N385", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15652-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15652-1.373.373", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15652-1.376.376", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15652-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15652-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15652-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15652-1.404.404", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.390.390", "start_pos": 390, "end_pos": 390, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1275073137", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275073137", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1275073137", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275073137#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DNVSDFSESSDSENSNKRII", "down_seq": "NSSEQKPENELKNKNTSKIN", "snv": [ { "evidence": [ { "id": "rs1275073137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275073137" }, { "id": "rs1275073137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275073137#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "10", "chr_pos": "63214999", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D390", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15652-1.373.373", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15652-1.376.376", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15652-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15652-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15652-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.404.404", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771832089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771832089", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771832089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771832089", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771832089", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771832089#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771832089", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771832089", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SNKRIIDNSSEQKPENELKN", "down_seq": "NTSKINGEEGKPHNNEKAGE", "snv": [ { "evidence": [ { "id": "rs771832089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771832089" }, { "id": "rs771832089", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771832089" }, { "id": "rs771832089", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771832089#frequency_tab" }, { "id": "rs771832089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771832089" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KNT->NNT).", "chr_id": "10", "chr_pos": "63214955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K404", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15652-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15652-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15652-1.421.421", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.421.421", "start_pos": 421, "end_pos": 421, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1449087603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449087603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1449087603", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1449087603", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs1449087603", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449087603", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1449087603", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1449087603", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LKNKNTSKINGEEGKPHNNE", "down_seq": "AGEETLKNSQPPWDQIQEDK", "snv": [ { "evidence": [ { "id": "rs1449087603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449087603" }, { "id": "rs1449087603", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1449087603" }, { "id": "rs1449087603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449087603" }, { "id": "rs1449087603", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1449087603" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEK->NET).", "chr_id": "10", "chr_pos": "63214905", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K421", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15652-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15652-1.430.430", "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": "Q15652-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "DTQLQEDMIIHSSEQSTVSD", "down_seq": "NSNDLLPQECNMDKTHTMEL", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HNS->NNS).", "chr_id": "10", "chr_pos": "63214750", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H473", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15652-1.475.475", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15652-1.486.486", "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": "Q15652-1.486.486", "start_pos": 486, "end_pos": 486, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1293472735", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293472735", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1293472735", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293472735#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EQSTVSDHNSNDLLPQECNM", "down_seq": "KTHTMELLPKEKFVSRPPTP", "snv": [ { "evidence": [ { "id": "rs1293472735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293472735" }, { "id": "rs1293472735", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293472735#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "10", "chr_pos": "63214711", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D486", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15652-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15652-1.475.475", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15652-1.501.501", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15652-1.505.505", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.559.559", "start_pos": 559, "end_pos": 559, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1468987639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468987639", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1468987639", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468987639#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1468987639", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468987639", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PNVSDSKHSIANAKFLETAK", "down_seq": "DSDQSWVSDVVKVDLTQSSV", "snv": [ { "evidence": [ { "id": "rs1468987639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468987639" }, { "id": "rs1468987639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468987639#frequency_tab" }, { "id": "rs1468987639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468987639" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "10", "chr_pos": "63214490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K559", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15652-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15652-1.575.575", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15652-1.577.577", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15652-1.578.578", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.562.562", "start_pos": 562, "end_pos": 562, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SDSKHSIANAKFLETAKKDS", "down_seq": "QSWVSDVVKVDLTQSSVTNA", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "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 (DQS->NQS).", "chr_id": "10", "chr_pos": "63214483", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D562", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15652-1.559.559", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15652-1.575.575", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15652-1.577.577", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15652-1.578.578", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.578.578", "start_pos": 578, "end_pos": 578, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748750435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748750435", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748750435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748750435", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748750435", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748750435", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KKDSDQSWVSDVVKVDLTQS", "down_seq": "VTNASSGNDHLNMEKEKYVS", "snv": [ { "evidence": [ { "id": "rs748750435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748750435" }, { "id": "rs748750435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748750435" }, { "id": "rs748750435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748750435" } ], "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 (SVT->NVT).", "chr_id": "10", "chr_pos": "63214434", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S578", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15652-1.559.559", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q15652-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.575.575", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15652-1.577.577", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15652-1.583.583", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15652-1.596.596", "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": "Q15652-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1392310661", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392310661", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1392310661", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1392310661#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1392310661", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392310661", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QSSVTNASSGNDHLNMEKEK", "down_seq": "VSYISPLSAVSVMEDKLHKR", "snv": [ { "evidence": [ { "id": "rs1392310661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392310661" }, { "id": "rs1392310661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1392310661#frequency_tab" }, { "id": "rs1392310661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392310661" } ], "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 (YVS->NVS).", "chr_id": "10", "chr_pos": "63214381", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y596", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15652-1.577.577", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q15652-1.578.578", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q15652-1.583.583", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15652-1.601.601", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15652-1.604.604", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.607.607", "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": "Q15652-1.637.637", "start_pos": 637, "end_pos": 637, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2492776789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492776789", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2492776789", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2492776789", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SPPPETIKSKLNTSVDTHKI", "down_seq": "SSPSPEVVKPKITHSPDSVK", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" }, { "id": "rs2492776789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492776789" }, { "id": "rs2492776789", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2492776789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "10", "chr_pos": "63214256", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K637", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15652-1.617.617", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15652-1.628.628", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15652-1.638.638", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15652-1.639.639", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15652-1.641.641", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15652-1.650.650", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15652-1.652.652", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15652-1.655.655", "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": "Q15652-1.677.677", "start_pos": 677, "end_pos": 677, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KSKATYVNSQATGERRLANK", "down_seq": "EHELSRCSFHPIPTRSSTLE", "snv": [ { "evidence": [ { "id": "Q15652", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15652" } ], "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 (NKI->NKT).", "chr_id": "10", "chr_pos": "63214137", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I677", "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": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q15652-1.685.685", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.691.691", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15652-1.694.694", "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": "Q15652-1.745.745", "start_pos": 745, "end_pos": 745, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767833843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767833843", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767833843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767833843", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767833843", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767833843#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767833843", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767833843", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GANHISPFLSQHPFPLHSSS", "down_seq": "RTCLNPGTHHPALTPAPHLL", "snv": [ { "evidence": [ { "id": "rs767833843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767833843" }, { "id": "rs767833843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767833843" }, { "id": "rs767833843", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767833843#frequency_tab" }, { "id": "rs767833843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767833843" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HRT->NRT).", "chr_id": "10", "chr_pos": "63213934", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H745", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.819.819", "start_pos": 819, "end_pos": 819, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755245590", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755245590", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755245590", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755245590", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755245590", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755245590#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755245590", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755245590", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VLPGVPTASLLGGHPRLESA", "down_seq": "ASSLSHLALAHQQQQQLLQH", "snv": [ { "evidence": [ { "id": "rs755245590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755245590" }, { "id": "rs755245590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755245590" }, { "id": "rs755245590", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755245590#frequency_tab" }, { "id": "rs755245590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755245590" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HAS->NAS).", "chr_id": "10", "chr_pos": "63213712", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H819", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15652-1.901.901", "start_pos": 901, "end_pos": 901, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs893685867", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893685867", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs893685867", "url": "http://gnomad.broadinstitute.org/awesome?query=rs893685867", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SKWVHPENAVNAEASLRRNS", "down_seq": "SPWLHQPTPVTSADGIGLLS", "snv": [ { "evidence": [ { "id": "rs893685867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893685867" }, { "id": "rs893685867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs893685867" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "10", "chr_pos": "63209229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P901", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q15652-1.900.900", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.912.912", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15652-1.913.913", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15652-1.921.921", "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": "Q15652-1.188.188", "start_pos": 188, "end_pos": 188, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Histone demethylase JMJD1C is phosphorylated by mTOR to activate de novo lipogenesis.", "journal": "Nature communications", "date": "2020", "authors": "Viscarra JA, Wang Y, Nguyen HP, Choi YG, Sul HS", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "reference": [ { "type": "PubMed", "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EVKVWVKEQKVQEIFMQGPY", "down_seq": "LNGYRVRVYRQDSATQWFTG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158" } ], "site_lbl": "Ser188" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "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": "Q15652-1.1989.1989", "start_pos": 1989, "end_pos": 1989, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CMPESQQQNTPPKSEKNGGS", "down_seq": "PESDVGTDNKLTPPESQSPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "site_lbl": "Ser1989" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15652-1.1979.1979", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15652-1.2005.2005", "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": "Q15652-1.2005.2005", "start_pos": 2005, "end_pos": 2005, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "NGGSSPESDVGTDNKLTPPE", "down_seq": "QSPLHWLADLAEQKAREEKK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser2005" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15652-1.1989.1989", "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": "Q15652-1.2047.2047", "start_pos": 2047, "end_pos": 2047, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NKELTLENQIKEEREQDNSE", "down_seq": "PNGRTSPLVSQNNEQGSTLR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser2047" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15652-1.2031.2031", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15652-1.2052.2052", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15652-1.2053.2053", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15652-1.2057.2057", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15652-1.2064.2064", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15652-1.2284.2284", "start_pos": 2284, "end_pos": 2284, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "IEDB", "id": "193746", "url": "https://www.iedb.org/epitope/193746" }, { "database": "IEDB", "id": "193999", "url": "https://www.iedb.org/epitope/193999" }, { "database": "IEDB", "id": "454697", "url": "https://www.iedb.org/epitope/454697" }, { "database": "IEDB", "id": "585300", "url": "https://www.iedb.org/epitope/585300" }, { "database": "IEDB", "id": "613524", "url": "https://www.iedb.org/epitope/613524" }, { "database": "IEDB", "id": "628521", "url": "https://www.iedb.org/epitope/628521" }, { "database": "IEDB", "id": "631522", "url": "https://www.iedb.org/epitope/631522" }, { "database": "IEDB", "id": "726390", "url": "https://www.iedb.org/epitope/726390" }, { "database": "IEDB", "id": "1014257", "url": "https://www.iedb.org/epitope/1014257" }, { "database": "IEDB", "id": "1348496", "url": "https://www.iedb.org/epitope/1348496" }, { "database": "IEDB", "id": "1356061", "url": "https://www.iedb.org/epitope/1356061" }, { "database": "IEDB", "id": "1360750", "url": "https://www.iedb.org/epitope/1360750" }, { "database": "IEDB", "id": "1361274", "url": "https://www.iedb.org/epitope/1361274" }, { "database": "IEDB", "id": "1365925", "url": "https://www.iedb.org/epitope/1365925" }, { "database": "IEDB", "id": "1367478", "url": "https://www.iedb.org/epitope/1367478" }, { "database": "IEDB", "id": "1369719", "url": "https://www.iedb.org/epitope/1369719" }, { "database": "IEDB", "id": "1369993", "url": "https://www.iedb.org/epitope/1369993" }, { "database": "IEDB", "id": "1370491", "url": "https://www.iedb.org/epitope/1370491" }, { "database": "IEDB", "id": "1370736", "url": "https://www.iedb.org/epitope/1370736" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.iedb.org/epitope/Q15652", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WPSGEDFKTMMPARYEDLLK", "down_seq": "LPLPEYCNPEGKFNLASHLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q15652", "url": "https://www.iedb.org/epitope/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Ser2284" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q15652-1.2300.2300", "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": "Q15652-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "KQNTHQQQQQRSIRPNKRKG", "down_seq": "DSSIPDEEKMKEEKYDYISR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser317" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15652-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15652-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15652-1.320.320", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15652-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "NTHQQQQQRSIRPNKRKGSD", "down_seq": "SIPDEEKMKEEKYDYISRGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser319" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15652-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15652-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15652-1.320.320", "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": "Q15652-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "THQQQQQRSIRPNKRKGSDS", "down_seq": "IPDEEKMKEEKYDYISRGEN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser320" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15652-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15652-1.319.319", "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": "Q15652-1.373.373", "start_pos": 373, "end_pos": 373, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKPEEDEKKLNMKRLRTDNV", "down_seq": "DFSESSDSENSNKRIIDNSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser373" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15652-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15652-1.376.376", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15652-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15652-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15652-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15652-1.390.390", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15652-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "EEDEKKLNMKRLRTDNVSDF", "down_seq": "ESSDSENSNKRIIDNSSEQK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser376" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15652-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.373.373", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15652-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15652-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15652-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.390.390", "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": "Q15652-1.378.378", "start_pos": 378, "end_pos": 378, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DEKKLNMKRLRTDNVSDFSE", "down_seq": "SDSENSNKRIIDNSSEQKPE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser378" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15652-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15652-1.373.373", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15652-1.376.376", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15652-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15652-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15652-1.390.390", "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": "Q15652-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKKLNMKRLRTDNVSDFSES", "down_seq": "DSENSNKRIIDNSSEQKPEN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser379" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15652-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15652-1.373.373", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.376.376", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15652-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15652-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.390.390", "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": "Q15652-1.430.430", "start_pos": 430, "end_pos": 430, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "NGEEGKPHNNEKAGEETLKN", "down_seq": "QPPWDQIQEDKKHEEAEKRK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser430" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15652-1.421.421", "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": "Q15652-1.475.475", "start_pos": 475, "end_pos": 475, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QLQEDMIIHSSEQSTVSDHN", "down_seq": "NDLLPQECNMDKTHTMELLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "site_lbl": "Ser475" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15652-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.486.486", "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": "Q15652-1.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QECNMDKTHTMELLPKEKFV", "down_seq": "RPPTPKCVIDITNDTNLEKV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "site_lbl": "Ser501" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15652-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15652-1.505.505", "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": "Q15652-1.601.601", "start_pos": 601, "end_pos": 601, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NASSGNDHLNMEKEKYVSYI", "down_seq": "PLSAVSVMEDKLHKRSPPPE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "site_lbl": "Ser601" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15652-1.583.583", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15652-1.596.596", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15652-1.604.604", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15652-1.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15652-1.617.617", "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": "Q15652-1.604.604", "start_pos": 604, "end_pos": 604, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Histone demethylase JMJD1C is phosphorylated by mTOR to activate de novo lipogenesis.", "journal": "Nature communications", "date": "2020", "authors": "Viscarra JA, Wang Y, Nguyen HP, Choi YG, Sul HS", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "reference": [ { "type": "PubMed", "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGNDHLNMEKEKYVSYISPL", "down_seq": "AVSVMEDKLHKRSPPPETIK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158" } ], "site_lbl": "Ser604" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15652-1.596.596", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.601.601", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15652-1.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15652-1.617.617", "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": "Q15652-1.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Histone demethylase JMJD1C is phosphorylated by mTOR to activate de novo lipogenesis.", "journal": "Nature communications", "date": "2020", "authors": "Viscarra JA, Wang Y, Nguyen HP, Choi YG, Sul HS", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "reference": [ { "type": "PubMed", "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DHLNMEKEKYVSYISPLSAV", "down_seq": "VMEDKLHKRSPPPETIKSKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "32034158", "url": "https://glygen.org/publication/PubMed/32034158" } ], "site_lbl": "Ser607" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15652-1.596.596", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15652-1.601.601", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.604.604", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15652-1.617.617", "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": "Q15652-1.617.617", "start_pos": 617, "end_pos": 617, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "VSYISPLSAVSVMEDKLHKR", "down_seq": "PPPETIKSKLNTSVDTHKIK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser617" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15652-1.601.601", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q15652-1.604.604", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15652-1.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.628.628", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15652-1.637.637", "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": "Q15652-1.638.638", "start_pos": 638, "end_pos": 638, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPPETIKSKLNTSVDTHKIK", "down_seq": "SPSPEVVKPKITHSPDSVKS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser638" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15652-1.628.628", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15652-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15652-1.639.639", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15652-1.641.641", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15652-1.650.650", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.652.652", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15652-1.655.655", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15652-1.639.639", "start_pos": 639, "end_pos": 639, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPETIKSKLNTSVDTHKIKS", "down_seq": "PSPEVVKPKITHSPDSVKSK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "site_lbl": "Ser639" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15652-1.628.628", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15652-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15652-1.638.638", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15652-1.641.641", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.650.650", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15652-1.652.652", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15652-1.655.655", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15652-1.641.641", "start_pos": 641, "end_pos": 641, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "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": "ETIKSKLNTSVDTHKIKSSP", "down_seq": "PEVVKPKITHSPDSVKSKAT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser641" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15652-1.628.628", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15652-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15652-1.638.638", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15652-1.639.639", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15652-1.650.650", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15652-1.652.652", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15652-1.655.655", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15652-1.943.943", "start_pos": 943, "end_pos": 943, "uniprot_canonical_ac": "Q15652-1", "length": 2540, "uniprot_id": "JHD2C_HUMAN", "protein_name": "Jumonji domain-containing protein 1C", "refseq_ac": "NP_001269877", "refseq_name": "jumonji domain-containing protein 1C isoform c", "gene_name": "JMJD1C", "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" } ], "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": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "Q15652-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IPVRPSSAEPHRPLKITAHS", "down_seq": "PPLTKTLVDHHKEELERKAF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15652", "url": "https://www.uniprot.org/uniprotkb/Q15652" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15652", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15652" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser943" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1382", "end_pos": "1382" }, { "start_pos": "1383", "end_pos": "1383" }, { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2072", "end_pos": "2072" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2202", "end_pos": "2202" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "913", "end_pos": "913" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "969", "end_pos": "969" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2336", "end_pos": "2336" }, { "start_pos": "505", "end_pos": "505" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1437", "end_pos": "1437" }, { "start_pos": "1073", "end_pos": "1073" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "1091", "end_pos": "1091" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1098", "end_pos": "1098" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1105", "end_pos": "1105" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "1177", "end_pos": "1177" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1192", "end_pos": "1192" }, { "start_pos": "1193", "end_pos": "1193" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "1266", "end_pos": "1266" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1404", "end_pos": "1404" }, { "start_pos": "1424", "end_pos": "1424" }, { "start_pos": "1451", "end_pos": "1451" }, { "start_pos": "1452", "end_pos": "1452" }, { "start_pos": "1453", "end_pos": "1453" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1460", "end_pos": "1460" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1519", "end_pos": "1519" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1587", "end_pos": "1587" }, { "start_pos": "1634", "end_pos": "1634" }, { "start_pos": "1688", "end_pos": "1688" }, { "start_pos": "1690", "end_pos": "1690" }, { "start_pos": "1691", "end_pos": "1691" }, { "start_pos": "1822", "end_pos": "1822" }, { "start_pos": "1843", "end_pos": "1843" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1878", "end_pos": "1878" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1947", "end_pos": "1947" }, { "start_pos": "1979", "end_pos": "1979" }, { "start_pos": "2031", "end_pos": "2031" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2064", "end_pos": "2064" }, { "start_pos": "2073", "end_pos": "2073" }, { "start_pos": "2099", "end_pos": "2099" }, { "start_pos": "2124", "end_pos": "2124" }, { "start_pos": "2125", "end_pos": "2125" }, { "start_pos": "2152", "end_pos": "2152" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2208", "end_pos": "2208" }, { "start_pos": "2234", "end_pos": "2234" }, { "start_pos": "2236", "end_pos": "2236" }, { "start_pos": "2300", "end_pos": "2300" }, { "start_pos": "2357", "end_pos": "2357" }, { "start_pos": "2381", "end_pos": "2381" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2531", "end_pos": "2531" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "578", "end_pos": "578" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "650", "end_pos": "650" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "819", "end_pos": "819" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "901", "end_pos": "901" }, { "start_pos": "912", "end_pos": "912" }, { "start_pos": "921", "end_pos": "921" }, { "start_pos": "973", "end_pos": "973" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1989", "end_pos": "1989" }, { "start_pos": "2005", "end_pos": "2005" }, { "start_pos": "2047", "end_pos": "2047" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2053", "end_pos": "2053" }, { "start_pos": "2284", "end_pos": "2284" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "601", "end_pos": "601" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "652", "end_pos": "652" }, { "start_pos": "943", "end_pos": "943" } ] } ], "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": "O14901-1.107.107", "start_pos": 107, "end_pos": 107, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "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": "O14901", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MDAATPELPKDFHSLSTLCI", "down_seq": "PPQSPDLVEPSTRTPVSPQV", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr107", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "O14901", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "10047657", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T107", "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": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "O14901-1.124.124", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14901", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "CTATDVLQSSAVVARALSGG", "down_seq": "ERGLLGLEPVPSSPCRAKGT", "snv": [ { "evidence": [ { "id": "O14901", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901" } ], "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 (5).", "chr_id": "2", "chr_pos": "10047794", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A153", "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: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": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "O14901-1.171.171", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1661264293", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1661264293", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1661264293", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1661264293#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1661264293", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1661264293", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GGAERGLLGLEPVPSSPCRA", "down_seq": "GTSVIRHTGESPAACFPTIQ", "snv": [ { "evidence": [ { "id": "rs1661264293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1661264293" }, { "id": "rs1661264293", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1661264293#frequency_tab" }, { "id": "rs1661264293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1661264293" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "2", "chr_pos": "10047850", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K171", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O14901-1.153.153", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1661191243", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1661191243", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1661191243", "url": "https://www.ensembl.org/id/rs1661191243", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MHTPDFAGPDDARAVDIM", "down_seq": "ICESILERKRHDSERSTCSI", "snv": [ { "evidence": [ { "id": "rs1661191243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1661191243" }, { "id": "rs1661191243", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1661191243" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIC->NIC).", "chr_id": "2", "chr_pos": "10046162", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1173199384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173199384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1173199384", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173199384", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SDSREGEEQLLGHFETLQDT", "down_seq": "LTDSLLSTNLVSCQPCLHKS", "snv": [ { "evidence": [ { "id": "rs1173199384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173199384" }, { "id": "rs1173199384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173199384" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "2", "chr_pos": "10047989", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H218", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14901", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VMLVLPQGALPPPAPCAANV", "down_seq": "AAGNTKLLPLAPAPVFITSS", "snv": [ { "evidence": [ { "id": "O14901", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVM->NVT).", "chr_id": "2", "chr_pos": "10048413", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M359", "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": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "O14901-1.365.365", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.365.365", "start_pos": 365, "end_pos": 365, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs555373433", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555373433", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs555373433", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555373433", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs555373433", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555373433", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs555373433", "url": "https://www.ncbi.nlm.nih.gov/snp/rs555373433#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs555373433", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555373433", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QGALPPPAPCAANVMAAGNT", "down_seq": "LLPLAPAPVFITSSQNCVPQ", "snv": [ { "evidence": [ { "id": "rs555373433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555373433" }, { "id": "rs555373433", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555373433" }, { "id": "rs555373433", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555373433" }, { "id": "rs555373433", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs555373433#frequency_tab" }, { "id": "rs555373433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555373433" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTK->NTT).", "chr_id": "2", "chr_pos": "10048431", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K365", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O14901-1.359.359", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1289503767", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289503767", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289503767", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289503767#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LPLAPAPVFITSSQNCVPQV", "down_seq": "FSRRRNYVCSFPGCRKTYFK", "snv": [ { "evidence": [ { "id": "rs1289503767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289503767" }, { "id": "rs1289503767", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289503767#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "2", "chr_pos": "10048496", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D387", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1558348943", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558348943", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1558348943", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1558348943#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1558348943", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1558348943", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SFPGCRKTYFKSSHLKAHLR", "down_seq": "HTGEKPFNCSWDGCDKKFAR", "snv": [ { "evidence": [ { "id": "rs1558348943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558348943" }, { "id": "rs1558348943", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1558348943#frequency_tab" }, { "id": "rs1558348943", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1558348943" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (THT->NHT).", "chr_id": "2", "chr_pos": "10048587", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T417", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O14901-1.429.429", "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": "O14901-1.429.429", "start_pos": 429, "end_pos": 429, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14901", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SHLKAHLRTHTGEKPFNCSW", "down_seq": "GCDKKFARSDELSRHRRTHT", "snv": [ { "evidence": [ { "id": "O14901", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "2", "chr_pos": "10052253", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D429", "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": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O14901-1.417.417", "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": "O14901-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1003664389", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003664389", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1003664389", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003664389#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1003664389", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1003664389", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RHMTTKKIPGWQAEVGKLNR", "down_seq": "ASAESPGSPLVSMPASA", "snv": [ { "evidence": [ { "id": "rs1003664389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003664389" }, { "id": "rs1003664389", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003664389#frequency_tab" }, { "id": "rs1003664389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1003664389" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRI->NRT).", "chr_id": "2", "chr_pos": "10052452", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I495", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14901-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14901", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RSQKGDLLRIRPLTPVSDSG", "down_seq": "VTTTVHMDAATPELPKDFHS", "snv": [ { "evidence": [ { "id": "O14901", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14901" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "2", "chr_pos": "10046345", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D80", "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": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O14901-1.82.82", "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": "O14901-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2125277334", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2125277334", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2125277334", "url": "https://www.ensembl.org/id/rs2125277334", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QKGDLLRIRPLTPVSDSGDV", "down_seq": "TTVHMDAATPELPKDFHSLS", "snv": [ { "evidence": [ { "id": "rs2125277334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2125277334" }, { "id": "rs2125277334", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2125277334" } ], "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": "2", "chr_pos": "10046352", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T82", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O14901-1.80.80", "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": "O14901-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "O14901-1", "length": 512, "uniprot_id": "KLF11_HUMAN", "protein_name": "Krueppel-like factor 11", "refseq_ac": "NP_001171187", "refseq_name": "Krueppel-like factor 11 isoform b", "gene_name": "KLF11", "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" } ], "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": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" }, { "database": "iPTMnet", "id": "O14901", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14901" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O14901", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14901", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LCITPPQSPDLVEPSTRTPV", "down_seq": "PQVTDSKACTATDVLQSSAV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14901", "url": "https://www.uniprot.org/uniprotkb/O14901" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14901", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14901" } ], "site_lbl": "Ser124" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] }, { "type": "snv", "site_list": [ { "start_pos": "107", "end_pos": "107" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "124", "end_pos": "124" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O14901-1.107.107", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UBB6-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "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": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs142794758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142794758", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142794758", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142794758", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs142794758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142794758", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs142794758", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142794758#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs142794758", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142794758", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs142794758", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142794758", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EEAEEANDLSQQVANLAISP", "down_seq": "TPGPTWPGDALRLLLPGWCH", "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": "Thr450", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" }, { "id": "rs142794758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142794758" }, { "id": "rs142794758", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142794758" }, { "id": "rs142794758", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142794758" }, { "id": "rs142794758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142794758#frequency_tab" }, { "id": "rs142794758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142794758" }, { "id": "rs142794758", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142794758" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "35562597", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T450", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UBB6-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UBB6-1.455.455", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "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": "ANDLSQQVANLAISPTTPGP", "down_seq": "WPGDALRLLLPGWCHLTVED", "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": "Thr455", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UBB6-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UBB6-1.450.450", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 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": "Q9UBB6-1.612.612", "start_pos": 612, "end_pos": 612, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "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": "SRGFFAAAILFLSQSHVARA", "down_seq": "PGSDQAVLALSPEYEGIWAD", "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": "Thr612", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "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": "Q9UBB6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UBB6" } ], "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": "Q9UBB6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UBB6" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UBB6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UBB6", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "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": "Q9UBB6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UBB6" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9UBB6-1.2.2", "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": "Q9UBB6-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AEPDLLAVLRGLSEDFQKAE", "down_seq": "ASKFELCQLLPLFLPPTTVP", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "1", "chr_pos": "35560851", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D234", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "KFELCQLLPLFLPPTTVPPE", "down_seq": "YRDLQAGLARILGSKLSSWQ", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "35560922", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C257", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q9UBB6-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KASIMASDCEPALNQAEGRN", "down_seq": "TLERYLGALREAKNDSEQFA", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NHT).", "chr_id": "1", "chr_pos": "35559174", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P34", "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": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q9UBB6-1.50.50", "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": "Q9UBB6-1.506.506", "start_pos": 506, "end_pos": 506, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs768006525", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768006525", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768006525", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768006525", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768006525", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768006525", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "APSLLCKYFLQQWELTSPGH", "down_seq": "TSVLPDSVEIGLQTCCHIFL", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" }, { "id": "rs768006525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768006525" }, { "id": "rs768006525", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768006525" }, { "id": "rs768006525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768006525" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "1", "chr_pos": "35563332", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D506", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQTCCHIFLNLVVTAPGLIK", "down_seq": "DACFTSLMNTLMTSLPALVQ", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" } ], "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": "35563768", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R538", "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": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.657.657", "start_pos": 657, "end_pos": 657, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "WFLGMQAFTGCVPLLPWLAP", "down_seq": "ALRSRWPQELLQLLGSVSPN", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" } ], "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 (5).", "chr_id": "1", "chr_pos": "35565442", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A657", "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: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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FAALLLVTKAVKAGDIDAKT", "down_seq": "RRIFDAVGFTFPNRLLTTKE", "snv": [ { "evidence": [ { "id": "Q9UBB6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UBB6" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "35560368", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R73", "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": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UBB6-1.60.60", "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": "Q9UBB6-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1202732525", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1202732525", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1202732525", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1202732525", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IFDAVGFTFPNRLLTTKEAP", "down_seq": "GCPDHVLRALGVALLACFCS", "snv": [ { "evidence": [ { "id": "rs1202732525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1202732525" }, { "id": "rs1202732525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1202732525" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "1", "chr_pos": "35560437", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D96", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UBB6-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "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": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" }, { "database": "iPTMnet", "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "M", "down_seq": "CCDLAAAGQLGKASIMASDC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6" } ], "site_lbl": "Ser2" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UBB6-1.0.0", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UBB6-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LYEEAEEANDLSQQVANLAI", "down_seq": "PTTPGPTWPGDALRLLLPGW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "site_lbl": "Ser448" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9UBB6-1.450.450", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UBB6-1.455.455", "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": "Q9UBB6-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q9UBB6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] } ], "crossref": [ { "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EGRNPTLERYLGALREAKND", "down_seq": "EQFAALLLVTKAVKAGDIDA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Ser50" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UBB6-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UBB6-1.60.60", "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": "Q9UBB6-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "Q9UBB6-1", "length": 729, "uniprot_id": "NCDN_HUMAN", "protein_name": "Neurochondrin", "refseq_ac": "NP_001014841", "refseq_name": "neurochondrin isoform 2", "gene_name": "NCDN", "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBB6", "url": "https://www.uniprot.org/uniprotkb/Q9UBB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q9UBB6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] } ], "crossref": [ { "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LGALREAKNDSEQFAALLLV", "down_seq": "KAVKAGDIDAKTRRRIFDAV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UBB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UBB6" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr60" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "450", "end_pos": "450" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "612", "end_pos": "612" } ] }, { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2", "end_pos": "2" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "60", "end_pos": "60" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UBB6-1.50.50", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UBB6-1.73.73", "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": "Q9NP31-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "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": "Q9NP31", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NP31", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NP31", "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": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "Q9NP31", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NP31" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "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": "Q9NP31-1.281.281", "start_pos": 281, "end_pos": 281, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NP31", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NP31", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TIPVPRHRPAPRPKPSNPIY", "down_seq": "EPDEPIAFYAMGRGSPGEAP", "snv": [ { "evidence": [ { "id": "Q9NP31", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NP31" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "156809363", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N281", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9NP31-1.280.280", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NP31-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NP31-1.296.296", "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": "Q9NP31-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nat. Biotechnol.", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" }, { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LSLRTEESNFGSKSQDPNPQ", "down_seq": "SPIIKQGQAPVPMQKEGAGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ], "site_lbl": "Tyr216" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9NP31-1.217.217", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NP31-1.217.217", "start_pos": 217, "end_pos": 217, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "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": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" }, { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLRTEESNFGSKSQDPNPQY", "down_seq": "PIIKQGQAPVPMQKEGAGEK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "site_lbl": "Ser217" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9NP31-1.216.216", "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": "Q9NP31-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "T cell specific adaptor protein (TSAd) promotes interaction of Nck with Lck and SLP-76 in T cells.", "journal": "Cell communication and signaling : CCS", "date": "2015", "authors": "Hem CD, Sundvold-Gjerstad V, Granum S, Koll L, Abrahamsen G, Buday L, Spurkland A", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SQLLRPKPPIPAKPQLPPEV", "down_seq": "TIPVPRHRPAPRPKPSNPIY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016" } ], "site_lbl": "Tyr260" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9NP31-1.280.280", "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": "Q9NP31-1.280.280", "start_pos": 280, "end_pos": 280, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Modulation of Lck function through multisite docking to T cell-specific adapter protein.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Granum S, Andersen TC, Sorlie M, Jorgensen M, Koll L, Berge T, Lea T, Fleckenstein B, Spurkland A, Sundvold-Gjerstad V", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] }, { "title": "T cell specific adaptor protein (TSAd) promotes interaction of Nck with Lck and SLP-76 in T cells.", "journal": "Cell communication and signaling : CCS", "date": "2015", "authors": "Hem CD, Sundvold-Gjerstad V, Granum S, Koll L, Abrahamsen G, Buday L, Spurkland A", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YTIPVPRHRPAPRPKPSNPI", "down_seq": "NEPDEPIAFYAMGRGSPGEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06239-1", "kinase_gene_name": "LCK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ], "site_lbl": "Tyr280" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" }, { "database": "PubMed", "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016" } ], "site_lbl": "Tyr280" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NP31-1.260.260", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NP31-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NP31-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NP31-1.296.296", "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": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NP31-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Modulation of Lck function through multisite docking to T cell-specific adapter protein.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Granum S, Andersen TC, Sorlie M, Jorgensen M, Koll L, Berge T, Lea T, Fleckenstein B, Spurkland A, Sundvold-Gjerstad V", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "APRPKPSNPIYNEPDEPIAF", "down_seq": "AMGRGSPGEAPSNIYVEVED", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06239-1", "kinase_gene_name": "LCK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ], "site_lbl": "Tyr290" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ], "site_lbl": "Tyr290" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NP31-1.280.280", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NP31-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NP31-1.296.296", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NP31-1.305.305", "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NP31-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "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": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" }, { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SNPIYNEPDEPIAFYAMGRG", "down_seq": "PGEAPSNIYVEVEDEGLPAT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "site_lbl": "Ser296" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9NP31-1.280.280", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NP31-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NP31-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NP31-1.305.305", "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": "Q9NP31-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q9NP31-1", "length": 389, "uniprot_id": "SH22A_HUMAN", "protein_name": "SH2 domain-containing protein 2A", "refseq_ac": "NP_001154914", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "gene_name": "SH2D2A", "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP31", "url": "https://www.uniprot.org/uniprotkb/Q9NP31" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Modulation of Lck function through multisite docking to T cell-specific adapter protein.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Granum S, Andersen TC, Sorlie M, Jorgensen M, Koll L, Berge T, Lea T, Fleckenstein B, Spurkland A, Sundvold-Gjerstad V", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] }, { "title": "T cell specific adaptor protein (TSAd) promotes interaction of Nck with Lck and SLP-76 in T cells.", "journal": "Cell communication and signaling : CCS", "date": "2015", "authors": "Hem CD, Sundvold-Gjerstad V, Granum S, Koll L, Abrahamsen G, Buday L, Spurkland A", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" } ], "reference": [ { "type": "PubMed", "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016" } ] } ], "crossref": [ { "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "EPIAFYAMGRGSPGEAPSNI", "down_seq": "VEVEDEGLPATLGHPVLRKS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06239-1", "kinase_gene_name": "LCK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "18541536", "url": "https://glygen.org/publication/PubMed/18541536" } ], "site_lbl": "Tyr305" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NP31", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NP31" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "26163016", "url": "https://glygen.org/publication/PubMed/26163016" } ], "site_lbl": "Tyr305" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "281", "end_pos": "281" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "305", "end_pos": "305" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9NP31-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NP31-1.296.296", "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": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6S5L8-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGDPDTTDYVAYVAKDPVNQ", "down_seq": "ACHILECHNGMAQDVISTIG", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Phosphorylation is markedly decreased. Completely reduces the phosphorylation and interaction with MUSK; when associated with K-549.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "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": "Q6S5L8-1.374.375", "start_pos": 374, "end_pos": 375, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "YY", "start_aa": "Y", "up_seq": "SCESEEVHIDSHAEEREDHE", "down_seq": "NEIPGKQPPVGGVSDMRIKV", "mutagenesis": [ { "sequence_org": "YY", "sequence_mut": "F", "comment": "Remains phosphorylated. Contains a residual phosphorylation; when associated with F-465. Retains the ability to bind MUSK. Reduced the phosphorylation in presence of MUSK; when associated with F-424 and F-465. Completely abolishes the phosphorylation in presence of MUSK; when associated with F-403; F-413; F-424 and F-465. Retains the ability to bind MUSK; when associated with F-465. Retains the ability to bind MUSK; when associated with F-424 and F-465. Retains the ability to bind MUSK; when associated with F-403; F-413; F-424 and F-465.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "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": "Q6S5L8-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PPVGGVSDMRIKVQATEQMA", "down_seq": "CPIQCEKLCYLPGNSKCSSV", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-413; F-424 and F-465.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q6S5L8-1.413.413", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6S5L8-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IKVQATEQMAYCPIQCEKLC", "down_seq": "LPGNSKCSSVYENCLEQSRA", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-403; F-424 and F-465.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6S5L8-1.403.403", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6S5L8-1.424.424", "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": "Q6S5L8-1.424.424", "start_pos": 424, "end_pos": 424, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CPIQCEKLCYLPGNSKCSSV", "down_seq": "ENCLEQSRAIGNVHPRGVQS", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Significantly decreased GRB2 interaction. Reduced the phosphorylation in presence of MUSK; when associated with 374-F-F-375 and F-465. Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-403; F-413 and F-465.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "site_lbl": "Tyr424" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6S5L8-1.413.413", "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": "Q6S5L8-1.465.465", "start_pos": 465, "end_pos": 465, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QRDTSLLKHTCRVDLFDDPC", "down_seq": "INTQALQSTPGSAGNQRSAQ", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Remains phosphorylated. Contains a residual phosphorylation; when associated with 374-F-F-375. Reduced the phosphorylation in presence of MUSK; when associated with 374-F-F-375 and 424. Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-403; F-413 and F-424. Retains the ability to bind MUSK. Retains the ability to bind MUSK; when associated with 374-F-F-375. Retains the ability to bind MUSK; when associated with 374-F-F-375 and F-424. Retains the ability to bind MUSK; when associated with 374-F-F-375; F-403; F-413 and F-424.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6S5L8-1.456.456", "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": "Q6S5L8-1.549.549", "start_pos": 549, "end_pos": 549, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "RefSeq", "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224" }, { "database": "iPTMnet", "id": "Q6S5L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6S5L8" } ], "reference": [ { "type": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "crossref": [ { "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GKLSRKAAESLLVKDGDFLV", "down_seq": "ESATSPGQYVLSGLQGGQAK", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Completely reduces the phosphorylation and interaction with MUSK; when associated with Q-315.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" }, { "database": "PubMed", "id": "17452444", "url": "https://glygen.org/publication/PubMed/17452444" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "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": "Q6S5L8-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6S5L8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6S5L8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SRQDRHFLQHLLGMGMNYCV", "down_seq": "YMGCVEVLQSMRSLDFGMRT", "snv": [ { "evidence": [ { "id": "Q6S5L8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6S5L8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "48962431", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R195", "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": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6S5L8-1.456.456", "start_pos": 456, "end_pos": 456, "uniprot_canonical_ac": "Q6S5L8-1", "length": 630, "uniprot_id": "SHC4_HUMAN", "protein_name": "SHC-transforming protein 4", "refseq_ac": "NP_976224", "refseq_name": "SHC-transforming protein 4", "gene_name": "SHC4", "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6S5L8", "url": "https://www.uniprot.org/uniprotkb/Q6S5L8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6S5L8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6S5L8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NVHPRGVQSQRDTSLLKHTC", "down_seq": "VDLFDDPCYINTQALQSTPG", "snv": [ { "evidence": [ { "id": "Q6S5L8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6S5L8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "48843525", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R456", "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": "mutagenesis", "site_list": [ { "start_pos": "315", "end_pos": "315" }, { "start_pos": "374", "end_pos": "375" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "549", "end_pos": "549" } ] }, { "type": "snv", "site_list": [ { "start_pos": "195", "end_pos": "195" }, { "start_pos": "456", "end_pos": "456" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "424", "end_pos": "424" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6S5L8-1.465.465", "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": "O60493-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60493" } ], "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": "O60493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60493" } ], "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": "O60493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60493" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60493", "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": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "O60493", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60493" }, { "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": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "O60493-1.9.10", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_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": "O60493-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LAQNERCLHMFLQDEIIDKS", "down_seq": "TPSKIRHA", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60493-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60493-1.157.157", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60493-1.160.160", "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": "O60493-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QNERCLHMFLQDEIIDKSYT", "down_seq": "SKIRHA", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Decreases VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60493-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60493-1.157.157", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60493-1.160.160", "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": "O60493-1.160.160", "start_pos": 160, "end_pos": 160, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CLHMFLQDEIIDKSYTPSKI", "down_seq": "HA", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O60493-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60493-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60493-1.157.157", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60493-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AETVADTRRLITKPQNLNDA", "down_seq": "GPPSNFLEIDVSNPQTVGVG", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60493-1.9.10", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "O60493-1.22.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60493-1.28.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60493-1.30.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60493-1.32.32", "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": "O60493-1.22.28", "start_pos": 22, "end_pos": 28, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "YGPPSNF", "start_aa": "Y", "up_seq": "AETVADTRRLITKPQNLNDA", "down_seq": "LEIDVSNPQTVGVGRGRFTT", "mutagenesis": [ { "sequence_org": "YGPPSNF", "sequence_mut": "", "comment": "Loss of VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60493-1.9.10", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "O60493-1.22.22", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "O60493-1.28.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60493-1.30.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60493-1.32.32", "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": "O60493-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A mechanism for retromer endosomal coat complex assembly with cargo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Harrison MS, Hung CS, Liu TT, Christiano R, Walther TC, Burd CG", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "TRRLITKPQNLNDAYGPPSN", "down_seq": "LEIDVSNPQTVGVGRGRFTT", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with retromer cargo-selective subcomplex VPS26A:VPS29:VPS35; when associated with A-30 and A-32.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60493-1.9.10", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60493-1.22.22", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "O60493-1.22.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60493-1.30.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60493-1.32.32", "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": "O60493-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A mechanism for retromer endosomal coat complex assembly with cargo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Harrison MS, Hung CS, Liu TT, Christiano R, Walther TC, Burd CG", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RLITKPQNLNDAYGPPSNFL", "down_seq": "IDVSNPQTVGVGRGRFTTYE", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes interaction with retromer cargo-selective subcomplex VPS26A:VPS29:VPS35; when associated with A-28 and A-32.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60493-1.9.10", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60493-1.22.22", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60493-1.22.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60493-1.28.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "O60493-1.30.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60493-1.32.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60493-1.50.50", "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": "O60493-1.30.32", "start_pos": 30, "end_pos": 32, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "EID", "start_aa": "E", "up_seq": "RLITKPQNLNDAYGPPSNFL", "down_seq": "VSNPQTVGVGRGRFTTYEIR", "mutagenesis": [ { "sequence_org": "EID", "sequence_mut": "TIR", "comment": "Loss of VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60493-1.9.10", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60493-1.22.22", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60493-1.22.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60493-1.28.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "O60493-1.32.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60493-1.50.50", "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": "O60493-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A mechanism for retromer endosomal coat complex assembly with cargo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Harrison MS, Hung CS, Liu TT, Christiano R, Walther TC, Burd CG", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ITKPQNLNDAYGPPSNFLEI", "down_seq": "VSNPQTVGVGRGRFTTYEIR", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes interaction with retromer cargo-selective subcomplex VPS26A:VPS29:VPS35; when associated with A-28 and A-30.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "24344282", "url": "https://glygen.org/publication/PubMed/24344282" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60493-1.22.22", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60493-1.22.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60493-1.28.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "O60493-1.30.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60493-1.50.50", "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": "O60493-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EIDVSNPQTVGVGRGRFTTY", "down_seq": "IRVKTNLPIFKLKESTVRRR", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Loss of VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60493-1.30.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60493-1.32.32", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60493-1.69.71", "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": "O60493-1.69.71", "start_pos": 69, "end_pos": 71, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P.", "journal": "Nature cell biology", "date": "2001", "authors": "Xu Y, Hortsman H, Seet L, Wong SH, Hong W", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RRY", "start_aa": "R", "up_seq": "YEIRVKTNLPIFKLKESTVR", "down_seq": "SDFEWLRSELERESKVVVPP", "mutagenesis": [ { "sequence_org": "RRY", "sequence_mut": "AAA", "comment": "Abolishes binding to phosphatidylinositol 3-phosphate.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60493-1.50.50", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "O60493-1.71.71", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60493-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60493-1.75.75", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60493-1.84.86", "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": "O60493-1.71.71", "start_pos": 71, "end_pos": 71, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P.", "journal": "Nature cell biology", "date": "2001", "authors": "Xu Y, Hortsman H, Seet L, Wong SH, Hong W", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] }, { "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": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IRVKTNLPIFKLKESTVRRR", "down_seq": "SDFEWLRSELERESKVVVPP", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes binding to phosphatidylinositol 3-phosphate.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr71" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "downstream", "id": "O60493-1.69.71", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60493-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60493-1.75.75", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60493-1.84.86", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60493-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TNLPIFKLKESTVRRRYSDF", "down_seq": "WLRSELERESKVVVPPLPGK", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Increases VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O60493-1.69.71", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60493-1.71.71", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60493-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60493-1.84.86", "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": "O60493-1.84.86", "start_pos": 84, "end_pos": 86, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "ESK", "start_aa": "E", "up_seq": "ESTVRRRYSDFEWLRSELER", "down_seq": "VVVPPLPGKAFLRQLPFRGD", "mutagenesis": [ { "sequence_org": "ESK", "sequence_mut": "NAG", "comment": "Decreases VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60493-1.69.71", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60493-1.71.71", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60493-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60493-1.75.75", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60493-1.99.110", "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": "O60493-1.99.110", "start_pos": 99, "end_pos": 110, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RQLPFRGDDGIF", "start_aa": "R", "up_seq": "SELERESKVVVPPLPGKAFL", "down_seq": "DDNFIEERKQGLEQFINKVA", "mutagenesis": [ { "sequence_org": "RQLPFRGDDGIF", "sequence_mut": "", "comment": "Increases VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60493-1.84.86", "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": "O60493-1.9.10", "start_pos": 9, "end_pos": 10, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.", "journal": "Nature communications", "date": "2018", "authors": "McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC, Danson CM, Heesom KJ, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "reference": [ { "type": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RR", "start_aa": "R", "up_seq": "MAETVADT", "down_seq": "LITKPQNLNDAYGPPSNFLE", "mutagenesis": [ { "sequence_org": "RR", "sequence_mut": "AA", "comment": "Loss of VPS35 binding.", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "30213940", "url": "https://glygen.org/publication/PubMed/30213940" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60493-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60493-1.22.22", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60493-1.22.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60493-1.28.28", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60493-1.30.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60493-1.30.32", "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": "O60493-1.157.157", "start_pos": 157, "end_pos": 157, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "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": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493", "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": "NERCLHMFLQDEIIDKSYTP", "down_seq": "KIRHA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser157" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O60493-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60493-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60493-1.160.160", "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": "O60493-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "O60493-1", "length": 162, "uniprot_id": "SNX3_HUMAN", "protein_name": "Sorting nexin-3", "refseq_ac": "NP_001287858", "refseq_name": "sorting nexin-3 isoform d", "gene_name": "SNX3", "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" } ], "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": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "iPTMnet", "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "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": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O60493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RVKTNLPIFKLKESTVRRRY", "down_seq": "DFEWLRSELERESKVVVPPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60493", "url": "https://www.uniprot.org/uniprotkb/O60493" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O60493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60493" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser72" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "22", "end_pos": "28" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "30", "end_pos": "32" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "69", "end_pos": "71" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "86" }, { "start_pos": "99", "end_pos": "110" }, { "start_pos": "9", "end_pos": "10" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O60493-1.69.71", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60493-1.71.71", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60493-1.75.75", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60493-1.84.86", "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8WWY3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8WWY3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "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": "Q8WWY3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "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": "Q8WWY3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Drougat L, Olivier-Van Stichelen S, Mortuaire M, Foulquier F, Lacoste AS, Michalski JC, Lefebvre T, Vercoutter-Edouart AS", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8WWY3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "22967762", "url": "https://glygen.org/publication/PubMed/22967762" } ] } ], "crossref": [ { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22967762", "url": "https://glygen.org/publication/PubMed/22967762", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "Q8WWY3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8WWY3" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "22967762", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967762" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Liu S, Li P, Dybkov O, Nottrott S, Hartmuth K, Luhrmann R, Carlomagno T, Wahl MC", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "RefSeq", "id": "NP_056444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056444" } ], "reference": [ { "type": "PubMed", "id": "17412961", "url": "https://glygen.org/publication/PubMed/17412961" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17412961", "url": "https://glygen.org/publication/PubMed/17412961", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "MLLGAQRKTLSGFSSTSVLP", "down_seq": "TGYIYHSDIVQSLPPDLRRK", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces binding to the complex formed by U4 snRNA and SNU13.", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "17412961", "url": "https://glygen.org/publication/PubMed/17412961" } ] }, { "sequence_org": "H", "sequence_mut": "K", "comment": "Reduces binding to the complex formed by U4 snRNA and SNU13.", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "17412961", "url": "https://glygen.org/publication/PubMed/17412961" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8WWY3-1.289.289", "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": "Q8WWY3-1.351.364", "start_pos": 351, "end_pos": 364, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.", "journal": "Human molecular genetics", "date": "2002", "authors": "Deery EC, Vithana EN, Newbold RJ, Gallon VA, Bhattacharya SS, Warren MJ, Hunt DM, Wilkie SE", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "12444105", "url": "https://glygen.org/publication/PubMed/12444105" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12444105", "url": "https://glygen.org/publication/PubMed/12444105", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RKKRGGRRYRKMKE", "start_aa": "R", "up_seq": "WQEPPPVKQVKPLPAPLDGQ", "down_seq": "RLGLTEIRKQANRMSFGEIE", "mutagenesis": [ { "sequence_org": "RKKRGGRRYRKMKE", "sequence_mut": "", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "12444105", "url": "https://glygen.org/publication/PubMed/12444105" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8WWY3-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8WWY3-1.379.379", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8WWY3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NNENLQQILTNATIMVVSVT", "down_seq": "STTQGQQLSEEELERLEEAC", "snv": [ { "evidence": [ { "id": "Q8WWY3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3" } ], "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": "19", "chr_pos": "54123544", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A171", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8WWY3-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8WWY3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PHTGYIYHSDIVQSLPPDLR", "down_seq": "KAARLVAAKCTLAARVDSFH", "snv": [ { "evidence": [ { "id": "Q8WWY3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "54126538", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R289", "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:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8WWY3-1.270.270", "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": "Q8WWY3-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8WWY3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DEIERKFDKWQEPPPVKQVK", "down_seq": "LPAPLDGQRKKRGGRRYRKM", "snv": [ { "evidence": [ { "id": "Q8WWY3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "54128152", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P342", "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": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8WWY3-1.351.364", "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": "Q8WWY3-1.492.492", "start_pos": 492, "end_pos": 492, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8WWY3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VAEANQKYFSSMAEFLKVKG", "down_seq": "KSGLMST", "snv": [ { "evidence": [ { "id": "Q8WWY3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WWY3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "54131406", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E492", "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": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8WWY3-1.482.482", "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": "Q8WWY3-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "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": "ACDMALELNASKHRIYEYVE", "down_seq": "RMSFIAPNLSIIIGASTAAK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser210" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "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": "Q8WWY3-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YRKMKERLGLTEIRKQANRM", "down_seq": "FGEIEEDAYQEDLGFSLGHL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "site_lbl": "Ser379" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8WWY3-1.351.364", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8WWY3-1.395.395", "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": "Q8WWY3-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ANRMSFGEIEEDAYQEDLGF", "down_seq": "LGHLGKSGSGRVRQTQVNEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "site_lbl": "Ser395" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8WWY3-1.379.379", "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": "Q8WWY3-1.432.432", "start_pos": 432, "end_pos": 432, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "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": "VNEATKARISKTLQRTLQKQ", "down_seq": "VVYGGKSTIRDRSSGTASSV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser432" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8WWY3-1.451.451", "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": "Q8WWY3-1.439.439", "start_pos": 439, "end_pos": 439, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RISKTLQRTLQKQSVVYGGK", "down_seq": "TIRDRSSGTASSVAFTPLQG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser439" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8WWY3-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8WWY3-1.455.455", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.440.440", "start_pos": 440, "end_pos": 440, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ISKTLQRTLQKQSVVYGGKS", "down_seq": "IRDRSSGTASSVAFTPLQGL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr440" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8WWY3-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8WWY3-1.455.455", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.445.445", "start_pos": 445, "end_pos": 445, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QRTLQKQSVVYGGKSTIRDR", "down_seq": "SGTASSVAFTPLQGLEIVNP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser445" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8WWY3-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8WWY3-1.455.455", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.446.446", "start_pos": 446, "end_pos": 446, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RTLQKQSVVYGGKSTIRDRS", "down_seq": "GTASSVAFTPLQGLEIVNPQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser446" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8WWY3-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8WWY3-1.455.455", "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": "Q8WWY3-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LQKQSVVYGGKSTIRDRSSG", "down_seq": "ASSVAFTPLQGLEIVNPQAA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr448" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8WWY3-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8WWY3-1.455.455", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "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": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KQSVVYGGKSTIRDRSSGTA", "down_seq": "SVAFTPLQGLEIVNPQAAEK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser450" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8WWY3-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8WWY3-1.455.455", "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": "Q8WWY3-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSVVYGGKSTIRDRSSGTAS", "down_seq": "VAFTPLQGLEIVNPQAAEKK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser451" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8WWY3-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8WWY3-1.455.455", "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": "Q8WWY3-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "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": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "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": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "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": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YGGKSTIRDRSSGTASSVAF", "down_seq": "PLQGLEIVNPQAAEKKVAEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Thr455" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8WWY3-1.439.439", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8WWY3-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8WWY3-1.445.445", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8WWY3-1.446.446", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8WWY3-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8WWY3-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8WWY3-1.451.451", "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": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8WWY3-1.482.482", "start_pos": 482, "end_pos": 482, "uniprot_canonical_ac": "Q8WWY3-1", "length": 499, "uniprot_id": "PRP31_HUMAN", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": "NP_056444", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" } ], "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": "Q8WWY3", "url": "https://www.uniprot.org/uniprotkb/Q8WWY3" }, { "database": "iPTMnet", "id": "Q8WWY3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3", "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": "IVNPQAAEKKVAEANQKYFS", "down_seq": "MAEFLKVKGEKSGLMST", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WWY3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WWY3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser482" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "351", "end_pos": "364" } ] }, { "type": "snv", "site_list": [ { "start_pos": "171", "end_pos": "171" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "492", "end_pos": "492" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "482", "end_pos": "482" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8WWY3-1.492.492", "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": "Q12899-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "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": "Q12899", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q12899" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q12899", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q12899", "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": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "Q12899", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q12899" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q12899-1.16.16", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_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": "Q12899-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "TRIM26 positively regulates the inflammatory immune response through K11-linked ubiquitination of TAB1.", "journal": "Cell death and differentiation", "date": "2021-11", "authors": "Zhao Jian, Cai Baoshan, Shao Zhugui, Zhang Lei, Zheng Yi, Ma Chunhong, Yi Fan, Liu Bingyu, Gao Chengjiang", "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "reference": [ { "type": "PubMed", "id": "34017102", "url": "https://glygen.org/publication/PubMed/34017102" } ] } ], "crossref": [ { "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "34017102", "url": "https://glygen.org/publication/PubMed/34017102", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "MATSAPLRSLEEEVT", "down_seq": "SICLDYLRDPVTIDCGHVFC", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Strong loss of ubiquitination activity.", "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" }, { "database": "PubMed", "id": "34017102", "url": "https://glygen.org/publication/PubMed/34017102" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q12899-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q12899-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12899", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DKGRQPGEVTREQQDAKLCE", "down_seq": "HREKLHYYCEDDGKLLCVMC", "snv": [ { "evidence": [ { "id": "Q12899", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "30198794", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R104", "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": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12899-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12899", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HREKLHYYCEDDGKLLCVMC", "down_seq": "ESREHRPHTAVLMEKAAQPH", "snv": [ { "evidence": [ { "id": "Q12899", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "30198730", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R125", "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": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12899-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12899", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QDQRQYIVAEFEQGHQFLRE", "down_seq": "EEHLLEQLAKLEQELTEGRE", "snv": [ { "evidence": [ { "id": "Q12899", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899" } ], "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": "6", "chr_pos": "30196676", "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:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12899-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12899", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "REKFKSRGVGELARLALVIS", "down_seq": "LEGKAQQPAAELMQDTRDFL", "snv": [ { "evidence": [ { "id": "Q12899", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "30196560", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E241", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12899-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12899", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SICLDYLRDPVTIDCGHVFC", "down_seq": "SCTTDVRPISGSRPVCPLCK", "snv": [ { "evidence": [ { "id": "Q12899", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "30198994", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R37", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q12899-1.44.44", "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": "Q12899-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q12899-1", "length": 539, "uniprot_id": "TRI26_HUMAN", "protein_name": "Tripartite motif-containing protein 26", "refseq_ac": "NP_001229712", "refseq_name": "tripartite motif-containing protein 26", "gene_name": "TRIM26", "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12899", "url": "https://www.uniprot.org/uniprotkb/Q12899" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12899", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RDPVTIDCGHVFCRSCTTDV", "down_seq": "PISGSRPVCPLCKKPFKKEN", "snv": [ { "evidence": [ { "id": "Q12899", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12899" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "30198973", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R44", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q12899-1.37.37", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.695.695", "start_pos": 695, "end_pos": 695, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" }, { "database": "O-GlcNAc Atlas", "id": "Q9UER7", "url": "https://oglcnac.org/atlas/detail/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "crossref": [ { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://oglcnac.org/atlas/detail/Q9UER7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2150987176", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150987176", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150987176", "url": "https://www.ensembl.org/id/rs2150987176", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLAPVADSSTRVDSPSHGLV", "down_seq": "SSLCIPSPARLSQTPHSQPP", "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": "Thr695", "evidence": [ { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "Q9UER7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9UER7" } ] } ], "snv": [ { "evidence": [ { "id": "rs2150987176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150987176" }, { "id": "rs2150987176", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150987176" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "33319076", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T695", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.696.696", "start_pos": 696, "end_pos": 696, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" }, { "database": "O-GlcNAc Atlas", "id": "Q9UER7", "url": "https://oglcnac.org/atlas/detail/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "crossref": [ { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://oglcnac.org/atlas/detail/Q9UER7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2150987161", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150987161", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150987161", "url": "https://www.ensembl.org/id/rs2150987161", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LAPVADSSTRVDSPSHGLVT", "down_seq": "SLCIPSPARLSQTPHSQPPR", "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": "Ser696", "evidence": [ { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "Q9UER7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9UER7" } ] } ], "snv": [ { "evidence": [ { "id": "rs2150987161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150987161" }, { "id": "rs2150987161", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150987161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "6", "chr_pos": "33319073", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S696", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.697.697", "start_pos": 697, "end_pos": 697, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" }, { "database": "O-GlcNAc Atlas", "id": "Q9UER7", "url": "https://oglcnac.org/atlas/detail/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://oglcnac.org/atlas/detail/Q9UER7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1303730866", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303730866", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1303730866", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303730866#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1303730866", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303730866", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "APVADSSTRVDSPSHGLVTS", "down_seq": "LCIPSPARLSQTPHSQPPRP", "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": "Ser697", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q9UER7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UER7" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "Q9UER7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9UER7" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" }, { "id": "rs1303730866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303730866" }, { "id": "rs1303730866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303730866#frequency_tab" }, { "id": "rs1303730866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303730866" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "33319070", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S697", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser697" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": "Q9UER7-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "RQIQRLEQLLALYVAEIRRL", "down_seq": "EKELDLSELDDPDSAYLQEA", "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Impairs interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.213.213", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.220.220", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.222.222", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.225.225", "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": "Q9UER7-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AEIRRLQEKELDLSELDDPD", "down_seq": "AYLQEARLKRKLIRLFGRLC", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.213.213", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.222.222", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.225.225", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.229.229", "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": "Q9UER7-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] }, { "title": "Structure of the variant histone H3.3-H4 heterodimer in complex with its chaperone DAXX.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Liu CP, Xiong C, Wang M, Yu Z, Yang N, Chen P, Zhang Z, Li G, Xu RM", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23142979", "url": "https://glygen.org/publication/PubMed/23142979" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23142979", "url": "https://glygen.org/publication/PubMed/23142979", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IRRLQEKELDLSELDDPDSA", "down_seq": "LQEARLKRKLIRLFGRLCEL", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" }, { "database": "PubMed", "id": "23142979", "url": "https://glygen.org/publication/PubMed/23142979" } ] }, { "sequence_org": "Y", "sequence_mut": "E", "comment": "Abolishes interaction with histone H3.3.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" }, { "database": "PubMed", "id": "23142979", "url": "https://glygen.org/publication/PubMed/23142979" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" }, { "database": "PubMed", "id": "23142979", "url": "https://glygen.org/publication/PubMed/23142979" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.213.213", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.220.220", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.225.225", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.229.229", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LQEKELDLSELDDPDSAYLQ", "down_seq": "ARLKRKLIRLFGRLCELKDC", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "L", "comment": "Impairs interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.213.213", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.220.220", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.222.222", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.229.229", "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": "Q9UER7-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ELDLSELDDPDSAYLQEARL", "down_seq": "RKLIRLFGRLCELKDCSSLT", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] }, { "sequence_org": "K", "sequence_mut": "L", "comment": "Impairs interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.213.213", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.220.220", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.222.222", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.225.225", "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": "Q9UER7-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KLIRLFGRLCELKDCSSLTG", "down_seq": "VIEQRIPYRGTRYPEVNRRI", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.270.270", "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": "Q9UER7-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "AARHSLGLPRQQLQLMAQDA", "down_seq": "RDVGIRLQERRHLDLIYNFG", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.328.328", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.331.331", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.337.337", "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": "Q9UER7-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QLQLMAQDAFRDVGIRLQER", "down_seq": "HLDLIYNFGCHLTDDYRPGV", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.317.317", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.331.331", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.337.337", "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": "Q9UER7-1.331.331", "start_pos": 331, "end_pos": 331, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DAXX envelops a histone H3.3-H4 dimer for H3.3-specific recognition.", "journal": "Nature", "date": "2012", "authors": "Elsasser SJ, Huang H, Lewis PW, Chin JW, Allis CD, Patel DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LMAQDAFRDVGIRLQERRHL", "down_seq": "LIYNFGCHLTDDYRPGVDPA", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes interaction with histones H3 and H4.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23075851", "url": "https://glygen.org/publication/PubMed/23075851" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.317.317", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.328.328", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.337.337", "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": "Q9UER7-1.630.630", "start_pos": 630, "end_pos": 630, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Modification of Daxx by small ubiquitin-related modifier-1.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Jang MS, Ryu SW, Kim E", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "12150977", "url": "https://glygen.org/publication/PubMed/12150977" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12150977", "url": "https://glygen.org/publication/PubMed/12150977", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "STSFNGGVSPHNWGDSGPPC", "down_seq": "KSRKEKKQTGSGPLGNSYVE", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes sumoylation; when associated with A-631.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "12150977", "url": "https://glygen.org/publication/PubMed/12150977" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.631.631", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.648.648", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.631.631", "start_pos": 631, "end_pos": 631, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Modification of Daxx by small ubiquitin-related modifier-1.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Jang MS, Ryu SW, Kim E", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "12150977", "url": "https://glygen.org/publication/PubMed/12150977" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12150977", "url": "https://glygen.org/publication/PubMed/12150977", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TSFNGGVSPHNWGDSGPPCK", "down_seq": "SRKEKKQTGSGPLGNSYVER", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes sumoylation; when associated with A-630.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "12150977", "url": "https://glygen.org/publication/PubMed/12150977" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.630.630", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.648.648", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.668.668", "start_pos": 668, "end_pos": 668, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Role of the ASK1-SEK1-JNK1-HIPK1 signal in Daxx trafficking and ASK1 oligomerization.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Song JJ, Lee YJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034" } ] }, { "title": "Homeodomain-interacting protein kinase 1 modulates Daxx localization, phosphorylation, and transcriptional activity.", "journal": "Mol. Cell. Biol.", "date": "2003", "authors": "Ecsedy JA, Michaelson JS, Leder P", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "12529400", "url": "https://glygen.org/publication/PubMed/12529400" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Mechanisms of 4-hydroxy-2-nonenal induced pro- and anti-apoptotic signaling.", "journal": "Biochemistry", "date": "2010", "authors": "Chaudhary P, Sharma R, Sharma A, Vatsyayan R, Yadav S, Singhal SS, Rauniyar N, Prokai L, Awasthi S, Awasthi YC", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "20565132", "url": "https://glygen.org/publication/PubMed/20565132" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12529400", "url": "https://glygen.org/publication/PubMed/12529400", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20565132", "url": "https://glygen.org/publication/PubMed/20565132", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YVERQRSVHEKNGKKICTLP", "down_seq": "PPSPLASLAPVADSSTRVDS", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No translocation to the cytosol upon glucose deprivation.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q86Z02-1", "kinase_gene_name": "HIPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "12529400", "url": "https://glygen.org/publication/PubMed/12529400" } ], "site_lbl": "Ser668" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20565132", "url": "https://glygen.org/publication/PubMed/20565132" } ], "site_lbl": "Ser668" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.648.648", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.688.688", "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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.671.671", "start_pos": 671, "end_pos": 671, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Role of the ASK1-SEK1-JNK1-HIPK1 signal in Daxx trafficking and ASK1 oligomerization.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Song JJ, Lee YJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Mechanisms of 4-hydroxy-2-nonenal induced pro- and anti-apoptotic signaling.", "journal": "Biochemistry", "date": "2010", "authors": "Chaudhary P, Sharma R, Sharma A, Vatsyayan R, Yadav S, Singhal SS, Rauniyar N, Prokai L, Awasthi S, Awasthi YC", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "20565132", "url": "https://glygen.org/publication/PubMed/20565132" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20565132", "url": "https://glygen.org/publication/PubMed/20565132", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RQRSVHEKNGKKICTLPSPP", "down_seq": "PLASLAPVADSSTRVDSPSH", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on cytosol translocation. upon glucose deprivation.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "12968034", "url": "https://glygen.org/publication/PubMed/12968034" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20565132", "url": "https://glygen.org/publication/PubMed/20565132" } ], "site_lbl": "Ser671" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.690.690", "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": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.733.740", "start_pos": 733, "end_pos": 740, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Role of SUMO-interacting motif in Daxx SUMO modification, subnuclear localization, and repression of sumoylated transcription factors.", "journal": "Molecular cell", "date": "2006", "authors": "Lin DY, Huang YS, Jeng JC, Kuo HY, Chang CC, Chao TT, Ho CC, Chen YC, Lin TP, Fang HI, Hung CC, Suen CS, Hwang MJ, Chang KS, Maul GG, Shih HM", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "Reactome", "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300" } ], "reference": [ { "type": "PubMed", "id": "17081986", "url": "https://glygen.org/publication/PubMed/17081986" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17081986", "url": "https://glygen.org/publication/PubMed/17081986", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "IIVLSDSD", "start_aa": "I", "up_seq": "QPPRPGTCKTSVATQCDPEE", "down_seq": "", "mutagenesis": [ { "sequence_org": "IIVLSDSD", "sequence_mut": "", "comment": "Abolishes sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "17081986", "url": "https://glygen.org/publication/PubMed/17081986" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.726.726", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.737.737", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.739.739", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2150996858", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150996858", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150996858", "url": "https://www.ensembl.org/id/rs2150996858", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2150996858", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2150996858", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KAHSAKKKLNLAPAATTSNE", "down_seq": "SGNNPPTHLSLDPTNAENTA", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" }, { "id": "rs2150996858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150996858" }, { "id": "rs2150996858", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150996858" }, { "id": "rs2150996858", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2150996858" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NEP->NES).", "chr_id": "6", "chr_pos": "33321312", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P155", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2150997883", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150997883", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150997883", "url": "https://www.ensembl.org/id/rs2150997883", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LYNRQQRAHSLFLASAEFCN", "down_seq": "LSRVLSRARSRPAKLYVYIN", "snv": [ { "evidence": [ { "id": "rs2150997883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150997883" }, { "id": "rs2150997883", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150997883" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "6", "chr_pos": "33321452", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I108", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.97.97", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.119.119", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FLASAEFCNILSRVLSRARS", "down_seq": "PAKLYVYINELCTVLKAHSA", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33321420", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R119", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.108.108", "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": "Q9UER7-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YINELCTVLKAHSAKKKLNL", "down_seq": "PAATTSNEPSGNNPPTHLSL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "6", "chr_pos": "33321339", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A146", "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: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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MATANSIIVLDDDD", "down_seq": "DEAAAQPGPSHPLPNAASPG", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "33321883", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E15", "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: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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9UER7-1.25.25", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.32.32", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.160.160", "start_pos": 160, "end_pos": 160, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KKKLNLAPAATTSNEPSGNN", "down_seq": "PTHLSLDPTNAENTASQSPR", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNP->NNS).", "chr_id": "6", "chr_pos": "33321297", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P160", "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": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNP->NNT).", "chr_id": "6", "chr_pos": "33321297", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P160", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.178.178", "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": "Q9UER7-1.175.175", "start_pos": 175, "end_pos": 175, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PSGNNPPTHLSLDPTNAENT", "down_seq": "SQSPRTRGSRRQIQRLEQLL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "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 (NTA->NTT).", "chr_id": "6", "chr_pos": "33321252", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A175", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.178.178", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.184.184", "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": "Q9UER7-1.177.177", "start_pos": 177, "end_pos": 177, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "GNNPPTHLSLDPTNAENTAS", "down_seq": "SPRTRGSRRQIQRLEQLLAL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33321246", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q177", "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: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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.178.178", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.184.184", "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": "Q9UER7-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs780621518", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780621518", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780621518", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780621518", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780621518", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780621518", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LEQLLALYVAEIRRLQEKEL", "down_seq": "LSELDDPDSAYLQEARLKRK", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" }, { "id": "rs780621518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780621518" }, { "id": "rs780621518", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780621518" }, { "id": "rs780621518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780621518" } ], "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 (DLS->NLS).", "chr_id": "6", "chr_pos": "33321144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D211", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.213.213", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.220.220", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.222.222", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.225.225", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.229.229", "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": "Q9UER7-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FGRLCELKDCSSLTGRVIEQ", "down_seq": "IPYRGTRYPEVNRRIERLIN", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "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": "6", "chr_pos": "33321008", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R256", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CELKDCSSLTGRVIEQRIPY", "down_seq": "GTRYPEVNRRIERLINKPGP", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33320997", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R260", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UER7-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.278.278", "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": "Q9UER7-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KDCSSLTGRVIEQRIPYRGT", "down_seq": "YPEVNRRIERLINKPGPDTF", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "33320988", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R263", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "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": "6", "chr_pos": "33320987", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R263", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.278.278", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q9UER7-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs146083974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146083974", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs146083974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146083974", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs146083974", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146083974#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs146083974", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146083974", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs146083974", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146083974", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GRVIEQRIPYRGTRYPEVNR", "down_seq": "IERLINKPGPDTFPDYGDVL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" }, { "id": "rs146083974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146083974" }, { "id": "rs146083974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146083974" }, { "id": "rs146083974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146083974#frequency_tab" }, { "id": "rs146083974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146083974" }, { "id": "rs146083974", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146083974" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRC).", "chr_id": "6", "chr_pos": "33320967", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R270", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UER7-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UER7-1.278.278", "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": "Q9UER7-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2150994807", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150994807", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150994807", "url": "https://www.ensembl.org/id/rs2150994807", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PYRGTRYPEVNRRIERLINK", "down_seq": "GPDTFPDYGDVLRAVEKAAA", "snv": [ { "evidence": [ { "id": "rs2150994807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150994807" }, { "id": "rs2150994807", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150994807" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "6", "chr_pos": "33320943", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P278", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2150994807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150994807" }, { "id": "rs2150994807", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150994807" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "6", "chr_pos": "33320943", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P278", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UER7-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9UER7-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "LRAVEKAAARHSLGLPRQQL", "down_seq": "LMAQDAFRDVGIRLQERRHL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "6", "chr_pos": "33320847", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q310", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.317.317", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.328.328", "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": "Q9UER7-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1282837289", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282837289", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1282837289", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282837289#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1282837289", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282837289", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DDDEDEAAAQPGPSHPLPNA", "down_seq": "SPGAEAPSSSEPHGARGSSS", "snv": [ { "evidence": [ { "id": "rs1282837289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282837289" }, { "id": "rs1282837289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282837289#frequency_tab" }, { "id": "rs1282837289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282837289" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "6", "chr_pos": "33321832", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A32", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.25.25", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.51.51", "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": "Q9UER7-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FRDVGIRLQERRHLDLIYNF", "down_seq": "CHLTDDYRPGVDPALSDPVL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NFG->NFS).", "chr_id": "6", "chr_pos": "33320766", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G337", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.317.317", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.328.328", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.331.331", "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": "Q9UER7-1.362.362", "start_pos": 362, "end_pos": 362, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DDYRPGVDPALSDPVLARRL", "down_seq": "ENRSLAMSRLDEVISKYAML", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "6", "chr_pos": "33320546", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R362", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.379.379", "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": "Q9UER7-1.390.390", "start_pos": 390, "end_pos": 390, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SRLDEVISKYAMLQDKSEEG", "down_seq": "RKKRRARLQGTSSHSADTPE", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33320463", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E390", "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": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.405.405", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.405.405", "start_pos": 405, "end_pos": 405, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSEEGERKKRRARLQGTSSH", "down_seq": "ADTPEASLDSGEGPSGMASQ", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33320417", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S405", "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: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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.412.412", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.424.424", "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": "Q9UER7-1.440.440", "start_pos": 440, "end_pos": 440, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SGMASQGCPSASRAETDDED", "down_seq": "EESDEEEEEEEEEEEEEATD", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33320158", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D440", "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: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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.424.424", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.459.459", "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": "Q9UER7-1.472.472", "start_pos": 472, "end_pos": 472, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EEEEEEATDSEEEEDLEQMQ", "down_seq": "GQEDDEEEDEEEEAAAGKDG", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33320062", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E472", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.459.459", "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": "Q9UER7-1.515.515", "start_pos": 515, "end_pos": 515, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "SPMSSLQISNEKNLEPGKQI", "down_seq": "RSSGEQQNKGRIVSPSLLSE", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "6", "chr_pos": "33319776", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S515", "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" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser515" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.495.495", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.498.498", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.499.499", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.527.527", "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": "Q9UER7-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2150999516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150999516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150999516", "url": "https://www.ensembl.org/id/rs2150999516", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AASPGAEAPSSSEPHGARGS", "down_seq": "SSGGKKCYKLENEKLFEEFL", "snv": [ { "evidence": [ { "id": "rs2150999516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150999516" }, { "id": "rs2150999516", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150999516" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "6", "chr_pos": "33321774", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.68.68", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.526.526", "start_pos": 526, "end_pos": 526, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KNLEPGKQISRSSGEQQNKG", "down_seq": "IVSPSLLSEEPLAPSSIDAE", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "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": "6", "chr_pos": "33319743", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R526", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.515.515", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.527.527", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.527.527", "start_pos": 527, "end_pos": 527, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NLEPGKQISRSSGEQQNKGR", "down_seq": "VSPSLLSEEPLAPSSIDAES", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33319741", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I527", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.515.515", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.526.526", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GAEAPSSSEPHGARGSSSSG", "down_seq": "KKCYKLENEKLFEEFLELCK", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33321762", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G55", "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: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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.68.68", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1770648711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1770648711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1770648711", "url": "https://www.ensembl.org/id/rs1770648711", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1770648711", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1770648711", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AEAPSSSEPHGARGSSSSGG", "down_seq": "KCYKLENEKLFEEFLELCKM", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" }, { "id": "rs1770648711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1770648711" }, { "id": "rs1770648711", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1770648711" }, { "id": "rs1770648711", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1770648711" } ], "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 (KKC->NKC).", "chr_id": "6", "chr_pos": "33321758", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K56", "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": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.68.68", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.605.605", "start_pos": 605, "end_pos": 605, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750302848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750302848", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750302848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750302848", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750302848", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750302848", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DISSSRKQSEEPFTTVLENG", "down_seq": "GMVSSTSFNGGVSPHNWGDS", "snv": [ { "evidence": [ { "id": "rs750302848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750302848" }, { "id": "rs750302848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750302848" }, { "id": "rs750302848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750302848" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "6", "chr_pos": "33319507", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A605", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.616.616", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.612.612", "start_pos": 612, "end_pos": 612, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSEEPFTTVLENGAGMVSST", "down_seq": "FNGGVSPHNWGDSGPPCKKS", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33319485", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S612", "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:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.630.630", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.631.631", "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": "Q9UER7-1.616.616", "start_pos": 616, "end_pos": 616, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2150988546", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150988546", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150988546", "url": "https://www.ensembl.org/id/rs2150988546", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PFTTVLENGAGMVSSTSFNG", "down_seq": "VSPHNWGDSGPPCKKSRKEK", "snv": [ { "evidence": [ { "id": "rs2150988546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150988546" }, { "id": "rs2150988546", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150988546" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGC).", "chr_id": "6", "chr_pos": "33319474", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G616", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.630.630", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.631.631", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.633.633", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UER7-1.633.633", "start_pos": 633, "end_pos": 633, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FNGGVSPHNWGDSGPPCKKS", "down_seq": "KEKKQTGSGPLGNSYVERQR", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33319423", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R633", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.630.630", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.631.631", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.648.648", "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": "Q9UER7-1.662.662", "start_pos": 662, "end_pos": 662, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1453165364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453165364", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1453165364", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453165364", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1453165364", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1453165364", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GPLGNSYVERQRSVHEKNGK", "down_seq": "ICTLPSPPSPLASLAPVADS", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" }, { "id": "rs1453165364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453165364" }, { "id": "rs1453165364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453165364" }, { "id": "rs1453165364", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1453165364" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIC->NIC).", "chr_id": "6", "chr_pos": "33319174", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K662", "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", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.648.648", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.682.682", "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": "Q9UER7-1.667.667", "start_pos": 667, "end_pos": 667, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SYVERQRSVHEKNGKKICTL", "down_seq": "SPPSPLASLAPVADSSTRVD", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33319160", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P667", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.648.648", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.682.682", "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": "Q9UER7-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RGSSSSGGKKCYKLENEKLF", "down_seq": "EFLELCKMQTADHPEVVPFL", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "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": "6", "chr_pos": "33321724", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E68", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.56.56", "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": "Q9UER7-1.721.721", "start_pos": 721, "end_pos": 721, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2150986804", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150986804", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150986804", "url": "https://www.ensembl.org/id/rs2150986804", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PSPARLSQTPHSQPPRPGTC", "down_seq": "TSVATQCDPEEIIVLSDSD", "snv": [ { "evidence": [ { "id": "rs2150986804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150986804" }, { "id": "rs2150986804", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150986804" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "6", "chr_pos": "33318997", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K721", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.726.726", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.733.740", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.737.737", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UER7-1.739.739", "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": "Q9UER7-1.735.735", "start_pos": 735, "end_pos": 735, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "PRPGTCKTSVATQCDPEEII", "down_seq": "LSDSD", "snv": [ { "evidence": [ { "id": "Q9UER7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UER7" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "33318763", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V735", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.726.726", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.733.740", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.737.737", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.739.739", "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": "Q9UER7-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ATTSNEPSGNNPPTHLSLDP", "down_seq": "NAENTASQSPRTRGSRRQIQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr169" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.178.178", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.184.184", "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": "Q9UER7-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EPSGNNPPTHLSLDPTNAEN", "down_seq": "ASQSPRTRGSRRQIQRLEQL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr174" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.178.178", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UER7-1.184.184", "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": "Q9UER7-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutant p53 disrupts the stress MAPK activation circuit induced by ASK1-dependent stabilization of Daxx.", "journal": "Cancer research", "date": "2009", "authors": "Kitamura T, Fukuyo Y, Inoue M, Horikoshi NT, Shindoh M, Rogers BE, Usheva A, Horikoshi N", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGNNPPTHLSLDPTNAENTA", "down_seq": "QSPRTRGSRRQIQRLEQLLA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q99683-1", "kinase_gene_name": "MAP3K5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335" } ], "site_lbl": "Ser176" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335" } ], "site_lbl": "Ser176" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.178.178", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UER7-1.184.184", "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A suppressive role of the prolyl isomerase Pin1 in cellular apoptosis mediated by the death-associated protein Daxx.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ryo A, Hirai A, Nishi M, Liou YC, Perrem K, Lin SC, Hirano H, Lee SW, Aoki I", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "17938171", "url": "https://glygen.org/publication/PubMed/17938171" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17938171", "url": "https://glygen.org/publication/PubMed/17938171", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NNPPTHLSLDPTNAENTASQ", "down_seq": "PRTRGSRRQIQRLEQLLALY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "17938171", "url": "https://glygen.org/publication/PubMed/17938171" } ], "site_lbl": "Ser178" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.184.184", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutant p53 disrupts the stress MAPK activation circuit induced by ASK1-dependent stabilization of Daxx.", "journal": "Cancer research", "date": "2009", "authors": "Kitamura T, Fukuyo Y, Inoue M, Horikoshi NT, Shindoh M, Rogers BE, Usheva A, Horikoshi N", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSLDPTNAENTASQSPRTRG", "down_seq": "RRQIQRLEQLLALYVAEIRR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q99683-1", "kinase_gene_name": "MAP3K5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335" } ], "site_lbl": "Ser184" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "19789335", "url": "https://glygen.org/publication/PubMed/19789335" } ], "site_lbl": "Ser184" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.169.169", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UER7-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UER7-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UER7-1.176.176", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.178.178", "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": 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": "Q9UER7-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QLLALYVAEIRRLQEKELDL", "down_seq": "ELDDPDSAYLQEARLKRKLI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser213" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.220.220", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.222.222", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.225.225", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.229.229", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSIIVLDDDDEDEAAAQPGP", "down_seq": "HPLPNAASPGAEAPSSSEPH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "site_lbl": "Ser25" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UER7-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.32.32", "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": "Q9UER7-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RRLRENRSLAMSRLDEVISK", "down_seq": "AMLQDKSEEGERKKRRARLQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Tyr379" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.390.390", "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": "Q9UER7-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KKRRARLQGTSSHSADTPEA", "down_seq": "LDSGEGPSGMASQGCPSASR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "site_lbl": "Ser412" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.424.424", "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": "Q9UER7-1.424.424", "start_pos": 424, "end_pos": 424, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "Phosphorylation of Daxx by ATM contributes to DNA damage-induced p53 activation.", "journal": "PloS one", "date": "2013", "authors": "Tang J, Agrawal T, Cheng Q, Qu L, Brewer MD, Chen J, Yang X", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HSADTPEASLDSGEGPSGMA", "down_seq": "QGCPSASRAETDDEDDEESD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" }, { "database": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" } ], "site_lbl": "Ser424" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.412.412", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.440.440", "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": "Q9UER7-1.459.459", "start_pos": 459, "end_pos": 459, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DDEESDEEEEEEEEEEEEEA", "down_seq": "DSEEEEDLEQMQEGQEDDEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "site_lbl": "Thr459" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.440.440", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.472.472", "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": "Q9UER7-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EDDEEEDEEEEAAAGKDGDK", "down_seq": "PMSSLQISNEKNLEPGKQIS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser495" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.498.498", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UER7-1.499.499", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.515.515", "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": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.498.498", "start_pos": 498, "end_pos": 498, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "EEEDEEEEAAAGKDGDKSPM", "down_seq": "SLQISNEKNLEPGKQISRSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser498" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.495.495", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UER7-1.499.499", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.515.515", "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": "Q9UER7-1.499.499", "start_pos": 499, "end_pos": 499, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "EEDEEEEAAAGKDGDKSPMS", "down_seq": "LQISNEKNLEPGKQISRSSG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser499" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.495.495", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.498.498", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.515.515", "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": "Q9UER7-1.561.561", "start_pos": 561, "end_pos": 561, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSIDAESNGEQPEELTLEEE", "down_seq": "PVSQLFELEIEALPLDTPSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "site_lbl": "Ser561" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.564.564", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.580.580", "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": "Q9UER7-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of Daxx by ATM contributes to DNA damage-induced p53 activation.", "journal": "PloS one", "date": "2013", "authors": "Tang J, Agrawal T, Cheng Q, Qu L, Brewer MD, Chen J, Yang X", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" } ] }, { "title": "DNA damage-induced regulatory interplay between DAXX, p53, ATM kinase and Wip1 phosphatase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2015", "authors": "Brazina J, Svadlenka J, Macurek L, Andera L, Hodny Z, Bartek J, Hanzlikova H", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DAESNGEQPEELTLEEESPV", "down_seq": "QLFELEIEALPLDTPSSVET", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" } ], "site_lbl": "Ser564" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" }, { "database": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ], "site_lbl": "Ser564" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.561.561", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UER7-1.580.580", "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.580.580", "start_pos": 580, "end_pos": 580, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ESPVSQLFELEIEALPLDTP", "down_seq": "SVETDISSSRKQSEEPFTTV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "site_lbl": "Ser580" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.561.561", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.564.564", "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": "Q9UER7-1.648.648", "start_pos": 648, "end_pos": 648, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PCKKSRKEKKQTGSGPLGNS", "down_seq": "VERQRSVHEKNGKKICTLPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Tyr648" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.630.630", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.631.631", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.668.668", "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": "Q9UER7-1.665.665", "start_pos": 665, "end_pos": 665, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "GNSYVERQRSVHEKNGKKIC", "down_seq": "LPSPPSPLASLAPVADSSTR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr665" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.648.648", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.682.682", "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": "Q9UER7-1.675.675", "start_pos": 675, "end_pos": 675, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "VHEKNGKKICTLPSPPSPLA", "down_seq": "LAPVADSSTRVDSPSHGLVT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser675" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.682.682", "start_pos": 682, "end_pos": 682, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "KICTLPSPPSPLASLAPVAD", "down_seq": "STRVDSPSHGLVTSSLCIPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser682" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.665.665", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.667.667", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UER7-1.702.702", "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": "Q9UER7-1.688.688", "start_pos": 688, "end_pos": 688, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Unmasking the suppressed immunopeptidome of EZH2-mutated diffuse large B-cell lymphomas through combination drug treatment.", "journal": "Blood advances", "date": "2022-07-26", "authors": "Bourne Christopher M, Mun Sung Soo, Dao Tao, Aretz Zita E H, Molvi Zaki, Gejman Ron S, Daman Andrew, Takata Katsuyoshi, Steidl Christian, Klatt Martin G, Scheinberg David A", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "35561310", "url": "https://glygen.org/publication/PubMed/35561310" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://www.iedb.org/epitope/Q9UER7", "database": "IEDB", "categories": [ "Other" ] }, { "id": "35561310", "url": "https://glygen.org/publication/PubMed/35561310", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPPSPLASLAPVADSSTRVD", "down_seq": "PSHGLVTSSLCIPSPARLSQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "IEDB", "id": "Q9UER7", "url": "https://www.iedb.org/epitope/Q9UER7" }, { "database": "PubMed", "id": "35561310", "url": "https://glygen.org/publication/PubMed/35561310" } ], "site_lbl": "Ser688" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.668.668", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.707.707", "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": "Q9UER7-1.690.690", "start_pos": 690, "end_pos": 690, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSPLASLAPVADSSTRVDSP", "down_seq": "HGLVTSSLCIPSPARLSQTP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser690" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.671.671", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.675.675", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.709.709", "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": "Q9UER7-1.702.702", "start_pos": 702, "end_pos": 702, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSTRVDSPSHGLVTSSLCIP", "down_seq": "PARLSQTPHSQPPRPGTCKT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser702" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UER7-1.682.682", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.721.721", "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": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.707.707", "start_pos": 707, "end_pos": 707, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DNA damage-induced regulatory interplay between DAXX, p53, ATM kinase and Wip1 phosphatase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2015", "authors": "Brazina J, Svadlenka J, Macurek L, Andera L, Hodny Z, Bartek J, Hanzlikova H", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DSPSHGLVTSSLCIPSPARL", "down_seq": "QTPHSQPPRPGTCKTSVATQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ], "site_lbl": "Ser707" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.688.688", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UER7-1.726.726", "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": "Q9UER7-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSHGLVTSSLCIPSPARLSQ", "down_seq": "PHSQPPRPGTCKTSVATQCD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Thr709" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.690.690", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UER7-1.726.726", "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": "Q9UER7-1.712.712", "start_pos": 712, "end_pos": 712, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Phosphorylation of Daxx by ATM contributes to DNA damage-induced p53 activation.", "journal": "PloS one", "date": "2013", "authors": "Tang J, Agrawal T, Cheng Q, Qu L, Brewer MD, Chen J, Yang X", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" } ] }, { "title": "DNA damage-induced regulatory interplay between DAXX, p53, ATM kinase and Wip1 phosphatase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2015", "authors": "Brazina J, Svadlenka J, Macurek L, Andera L, Hodny Z, Bartek J, Hanzlikova H", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLVTSSLCIPSPARLSQTPH", "down_seq": "QPPRPGTCKTSVATQCDPEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "23405218", "url": "https://glygen.org/publication/PubMed/23405218" }, { "database": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ], "site_lbl": "Ser712" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.695.695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.696.696", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UER7-1.697.697", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UER7-1.702.702", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UER7-1.726.726", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.726.726", "start_pos": 726, "end_pos": 726, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DNA damage-induced regulatory interplay between DAXX, p53, ATM kinase and Wip1 phosphatase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2015", "authors": "Brazina J, Svadlenka J, Macurek L, Andera L, Hodny Z, Bartek J, Hanzlikova H", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LSQTPHSQPPRPGTCKTSVA", "down_seq": "QCDPEEIIVLSDSD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "25659035", "url": "https://glygen.org/publication/PubMed/25659035" } ], "site_lbl": "Thr726" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UER7-1.707.707", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UER7-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UER7-1.712.712", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UER7-1.733.740", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UER7-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.737.737", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UER7-1.739.739", "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": "Q9UER7-1.737.737", "start_pos": 737, "end_pos": 737, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural and functional roles of Daxx SIM phosphorylation in SUMO paralog-selective binding and apoptosis modulation.", "journal": "Molecular cell", "date": "2011", "authors": "Chang CC, Naik MT, Huang YS, Jeng JC, Liao PH, Kuo HY, Ho CC, Hsieh YL, Lin CH, Huang NJ, Naik NM, Kung CC, Lin SY, Chen RH, Chang KS, Huang TH, Shih HM", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PGTCKTSVATQCDPEEIIVL", "down_seq": "DSD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068" } ], "site_lbl": "Ser737" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068" } ], "site_lbl": "Ser737" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UER7-1.726.726", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UER7-1.733.740", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UER7-1.739.739", "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": 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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.739.739", "start_pos": 739, "end_pos": 739, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural and functional roles of Daxx SIM phosphorylation in SUMO paralog-selective binding and apoptosis modulation.", "journal": "Molecular cell", "date": "2011", "authors": "Chang CC, Naik MT, Huang YS, Jeng JC, Liao PH, Kuo HY, Ho CC, Hsieh YL, Lin CH, Huang NJ, Naik NM, Kung CC, Lin SY, Chen RH, Chang KS, Huang TH, Shih HM", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068" } ] }, { "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "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": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TCKTSVATQCDPEEIIVLSD", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068" } ], "site_lbl": "Ser739" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "21474068", "url": "https://glygen.org/publication/PubMed/21474068" } ], "site_lbl": "Ser739" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UER7-1.721.721", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UER7-1.726.726", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UER7-1.733.740", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UER7-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UER7-1.737.737", "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": 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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UER7-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "Q9UER7-1", "length": 740, "uniprot_id": "DAXX_HUMAN", "protein_name": "Death domain-associated protein 6", "refseq_ac": "NP_001135441", "refseq_name": "death domain-associated protein 6 isoform a", "gene_name": "DAXX", "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" } ], "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": "Q9UER7", "url": "https://www.uniprot.org/uniprotkb/Q9UER7" }, { "database": "iPTMnet", "id": "Q9UER7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7", "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": "QTADHPEVVPFLYNRQQRAH", "down_seq": "LFLASAEFCNILSRVLSRAR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UER7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UER7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser97" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "733", "end_pos": "740" } ] }, { "type": "snv", "site_list": [ { "start_pos": "155", "end_pos": "155" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "695", "end_pos": "695" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "735", "end_pos": "735" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "675", "end_pos": "675" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "688", "end_pos": "688" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "697", "end_pos": "697" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "726", "end_pos": "726" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "739", "end_pos": "739" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9UER7-1.108.108", "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": "Q8TEK3-2.1096.1096", "start_pos": 1096, "end_pos": 1096, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1251069640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251069640", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1251069640", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1251069640#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1251069640", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251069640", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2144906065", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144906065", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144906065", "url": "https://www.ensembl.org/id/rs2144906065", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VPSHGQDSRRRGRRKRASAG", "down_seq": "PSLSAGVSPKRRALPSVAGL", "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": "Thr1096", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" }, { "id": "rs1251069640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251069640" }, { "id": "rs1251069640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1251069640#frequency_tab" }, { "id": "rs1251069640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251069640" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "2222456", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1096", "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: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": "rs2144906065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144906065" }, { "id": "rs2144906065", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144906065" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "2222455", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1096", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.1093.1093", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.1100.1100", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.1103.1103", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.1104.1104", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q8TEK3-2.1449.1449", "start_pos": 1449, "end_pos": 1449, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "database": "O-GlcNAc Atlas", "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "DOT1L O-GlcNAcylation promotes its protein stability and MLL-fusion leukemia cell proliferation.", "journal": "Cell reports", "date": "2021", "authors": "Song T, Zou Q, Yan Y, Lv S, Li N, Zhao X, Ma X, Liu H, Tang B, Sun L", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "database": "O-GlcNAc Atlas", "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "34551297", "url": "https://glygen.org/publication/PubMed/34551297" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3", "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": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34551297", "url": "https://glygen.org/publication/PubMed/34551297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1222977879", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222977879", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1222977879", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222977879", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2144936765", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144936765", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144936765", "url": "https://www.ensembl.org/id/rs2144936765", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SAAAVPPGSLLSGPGLAPAA", "down_seq": "SAGGAASSAQTHRSFLGPFP", "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": "Ser1449", "evidence": [ { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q8TEK3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34551297", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34551297" }, { "id": "Q8TEK3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" } ] } ], "snv": [ { "evidence": [ { "id": "rs1222977879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222977879" }, { "id": "rs1222977879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222977879" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "19", "chr_pos": "2226866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2144936765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144936765" }, { "id": "rs2144936765", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144936765" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "19", "chr_pos": "2226867", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1222977879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222977879" }, { "id": "rs1222977879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222977879" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "19", "chr_pos": "2226866", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1449", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.1430.1430", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.1436.1436", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.1443.1443", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.1447.1447", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.1511.1511", "start_pos": 1511, "end_pos": 1511, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "database": "O-GlcNAc Atlas", "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "DOT1L O-GlcNAcylation promotes its protein stability and MLL-fusion leukemia cell proliferation.", "journal": "Cell reports", "date": "2021", "authors": "Song T, Zou Q, Yan Y, Lv S, Li N, Zhao X, Ma X, Liu H, Tang B, Sun L", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "database": "O-GlcNAc Atlas", "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "34551297", "url": "https://glygen.org/publication/PubMed/34551297" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3", "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": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34551297", "url": "https://glygen.org/publication/PubMed/34551297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs2144939367", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144939367", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144939367", "url": "https://www.ensembl.org/id/rs2144939367", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1404710069", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404710069", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1404710069", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404710069", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSVLQSLFSSVPAAAGLVHV", "down_seq": "SAATRLTNSHAMGSFSGVAG", "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": "Ser1511", "evidence": [ { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q8TEK3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34551297", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34551297" }, { "id": "Q8TEK3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1511", "evidence": [ { "id": "34551297", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34551297" }, { "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": "rs2144939367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144939367" }, { "id": "rs2144939367", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144939367" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "19", "chr_pos": "2227053", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" }, { "id": "rs1404710069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404710069" }, { "id": "rs1404710069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404710069" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "19", "chr_pos": "2227052", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S1511", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.1509.1509", "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", "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 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", "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": 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", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.480.480", "start_pos": 480, "end_pos": 480, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs200044786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200044786", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200044786", "url": "https://www.ensembl.org/id/rs200044786", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs970770450", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970770450", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs970770450", "url": "https://www.ensembl.org/id/rs970770450", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FYQLPPSVQRHSPNPLLVAP", "down_seq": "PPALQKLLESFKIQYLQFLA", "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": "Thr480", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs200044786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200044786" }, { "id": "rs200044786", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs200044786" } ], "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": "19", "chr_pos": "2211185", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs970770450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970770450" }, { "id": "rs970770450", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs970770450" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "2211186", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200044786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200044786" }, { "id": "rs200044786", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs200044786" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "2211185", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T480", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr480" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8TEK3-2.465.465", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.471.471", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q8TEK3-2.882.882", "start_pos": 882, "end_pos": 882, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "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": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "database": "O-GlcNAc Atlas", "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "DOT1L O-GlcNAcylation promotes its protein stability and MLL-fusion leukemia cell proliferation.", "journal": "Cell reports", "date": "2021", "authors": "Song T, Zou Q, Yan Y, Lv S, Li N, Zhao X, Ma X, Liu H, Tang B, Sun L", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "database": "O-GlcNAc Atlas", "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "34551297", "url": "https://glygen.org/publication/PubMed/34551297" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3", "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": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34551297", "url": "https://glygen.org/publication/PubMed/34551297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://oglcnac.org/atlas/detail/Q8TEK3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1257862173", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257862173", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1257862173", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257862173", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ITSLPISIPLSTVQPNKLPV", "down_seq": "IPLASVVLPSRAERARSTPS", "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": "Ser882", "evidence": [ { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q8TEK3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TEK3" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34551297", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34551297" }, { "id": "Q8TEK3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8TEK3" } ] } ], "snv": [ { "evidence": [ { "id": "rs1257862173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257862173" }, { "id": "rs1257862173", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257862173" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "19", "chr_pos": "2217872", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S882", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.899.899", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8TEK3-2.900.900", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.902.902", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.163.165", "start_pos": 163, "end_pos": 165, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain.", "journal": "Current biology : CB", "date": "2002", "authors": "Feng Q, Wang H, Ng HH, Erdjument-Bromage H, Tempst P, Struhl K, Zhang Y", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "12123582", "url": "https://glygen.org/publication/PubMed/12123582" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12123582", "url": "https://glygen.org/publication/PubMed/12123582", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "GSG", "start_aa": "G", "up_seq": "LVAQMIDEIKMTDDDLFVDL", "down_seq": "VGQVVLQVAAATNCKHHYGV", "mutagenesis": [ { "sequence_org": "GSG", "sequence_mut": "RCR", "comment": "Abolishes methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "12123582", "url": "https://glygen.org/publication/PubMed/12123582" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q8TEK3-2.170.170", "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": "Q8TEK3-2.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase.", "journal": "Cell", "date": "2003", "authors": "Min J, Feng Q, Li Z, Zhang Y, Xu RM", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GDFLSEEWRERIANTSVIFV", "down_seq": "NFAFGPEVDHQLKERFANMK", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190" } ] }, { "sequence_org": "N", "sequence_mut": "D", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.231.231", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.243.243", "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": "Q8TEK3-2.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Two DOT1 enzymes cooperatively mediate efficient ubiquitin-independent histone H3 lysine 76 tri-methylation in kinetoplastids.", "journal": "Nature communications", "date": "2024-03-19", "authors": "Frisbie Victoria S, Hashimoto Hideharu, Xie Yixuan, De Luna Vitorino Francisca N, Baeza Josue, Nguyen Tam, Yuan Zhangerjiao, Kiselar Janna, Garcia Benjamin A, Debler Erik W", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "38503750", "url": "https://glygen.org/publication/PubMed/38503750" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "38503750", "url": "https://glygen.org/publication/PubMed/38503750", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DHQLKERFANMKEGGRIVSS", "down_seq": "PFAPLNFRINSRNLSDIGTI", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "D", "comment": "Reduces methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "38503750", "url": "https://glygen.org/publication/PubMed/38503750" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q8TEK3-2.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase.", "journal": "Cell", "date": "2003", "authors": "Min J, Feng Q, Li Z, Zhang Y, Xu RM", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RVVELSPLKGSVSWTGKPVS", "down_seq": "YLHTIDRTILENYFSSLKNP", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "12628190", "url": "https://glygen.org/publication/PubMed/12628190" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.306.306", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.318.318", "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": "Q8TEK3-2.1048.1048", "start_pos": 1048, "end_pos": 1048, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1380609342", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380609342", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1380609342", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380609342", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LPSDSGFSDPESEAKRRIVF", "down_seq": "ITTGAGSAKQSPSSKHSPLT", "snv": [ { "evidence": [ { "id": "rs1380609342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380609342" }, { "id": "rs1380609342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380609342" } ], "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 (TIT->NIT).", "chr_id": "19", "chr_pos": "2222312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1048", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.1035.1035", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.1057.1057", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.1059.1059", "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": "Q8TEK3-2.1057.1057", "start_pos": 1057, "end_pos": 1057, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1462317569", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462317569", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1462317569", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1462317569#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1462317569", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462317569", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PESEAKRRIVFTITTGAGSA", "down_seq": "QSPSSKHSPLTASARGDCVP", "snv": [ { "evidence": [ { "id": "rs1462317569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462317569" }, { "id": "rs1462317569", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1462317569#frequency_tab" }, { "id": "rs1462317569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462317569" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "19", "chr_pos": "2222340", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1057", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.1048.1048", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.1059.1059", "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": "Q8TEK3-2.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LWKGTTQPMKLNTRPSTGLL", "down_seq": "HILQQVYNHSVTDPEKLNNY", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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": "19", "chr_pos": "2191070", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R108", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8TEK3-2.90.90", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.118.118", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1103.1103", "start_pos": 1103, "end_pos": 1103, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "SRRRGRRKRASAGTPSLSAG", "down_seq": "SPKRRALPSVAGLFTQPSGS", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2222476", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V1103", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.1093.1093", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.1096.1096", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.1100.1100", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.1104.1104", "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": "Q8TEK3-2.1135.1135", "start_pos": 1135, "end_pos": 1135, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1599617862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599617862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599617862", "url": "https://www.ensembl.org/id/rs1599617862", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GLFTQPSGSPLNLNSMVSNI", "down_seq": "QPLEITAISSPETSLKSSPV", "snv": [ { "evidence": [ { "id": "rs1599617862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599617862" }, { "id": "rs1599617862", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599617862" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIT).", "chr_id": "19", "chr_pos": "2223294", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1135", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.1148.1148", "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": "Q8TEK3-2.1178.1178", "start_pos": 1178, "end_pos": 1178, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2144912903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144912903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144912903", "url": "https://www.ensembl.org/id/rs2144912903", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QDHDQPPVLKKERPLSQTNG", "down_seq": "HYSPLTSDEEPGSEDEPSSA", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" }, { "id": "rs2144912903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144912903" }, { "id": "rs2144912903", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144912903" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "19", "chr_pos": "2223422", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1178", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LNTRPSTGLLRHILQQVYNH", "down_seq": "VTDPEKLNNYEPFSPEVYGE", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2191100", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S118", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.108.108", "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": "Q8TEK3-2.1204.1204", "start_pos": 1204, "end_pos": 1204, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TSDEEPGSEDEPSSARIERK", "down_seq": "ATISLESKSPPKTLENGGGL", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IAT->NAT).", "chr_id": "19", "chr_pos": "2225402", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I1204", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.1213.1213", "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": "Q8TEK3-2.1242.1242", "start_pos": 1242, "end_pos": 1242, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GGLAGRKPAPAGEPVNSSKW", "down_seq": "STFSPISDIGLAKSADSPLQ", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "19", "chr_pos": "2226247", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K1242", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.1246.1246", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.1259.1259", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8TEK3-2.1260.1260", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1260.1260", "start_pos": 1260, "end_pos": 1260, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KWKSTFSPISDIGLAKSADS", "down_seq": "LQASSALSQNSLFTFRPALE", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226300", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1260", "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: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8TEK3-2.1242.1242", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.1246.1246", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.1259.1259", "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": "Q8TEK3-2.1299.1299", "start_pos": 1299, "end_pos": 1299, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEEPSADAKLAAHPRKGFPG", "down_seq": "LSGADGLSPGTNPANGCTFG", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226417", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1299", "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: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.1319.1319", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1319.1319", "start_pos": 1319, "end_pos": 1319, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SLSGADGLSPGTNPANGCTF", "down_seq": "GGLAADLSLHSFSDGASLPH", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226476", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1319", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.1299.1299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.1330.1330", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1330.1330", "start_pos": 1330, "end_pos": 1330, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1299978953", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299978953", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1299978953", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299978953", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TNPANGCTFGGGLAADLSLH", "down_seq": "FSDGASLPHKGPEAAGLSSP", "snv": [ { "evidence": [ { "id": "rs1299978953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299978953" }, { "id": "rs1299978953", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299978953" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "19", "chr_pos": "2226510", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1330", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.1319.1319", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8TEK3-2.1348.1348", "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": "Q8TEK3-2.1411.1411", "start_pos": 1411, "end_pos": 1411, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EGGLPLCGPTDKTPLLSGKA", "down_seq": "KARDREVDLKNGHNLFISAA", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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": "2226752", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1411", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.1430.1430", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1427.1427", "start_pos": 1427, "end_pos": 1427, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2024354091", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2024354091", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2024354091", "url": "https://www.ensembl.org/id/rs2024354091", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SGKAAKARDREVDLKNGHNL", "down_seq": "ISAAAVPPGSLLSGPGLAPA", "snv": [ { "evidence": [ { "id": "rs2024354091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2024354091" }, { "id": "rs2024354091", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2024354091" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLF->NLS).", "chr_id": "19", "chr_pos": "2226801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1427", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.1411.1411", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.1430.1430", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.1436.1436", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.1443.1443", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.1447.1447", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1430.1430", "start_pos": 1430, "end_pos": 1430, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AAKARDREVDLKNGHNLFIS", "down_seq": "AAVPPGSLLSGPGLAPAASS", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226810", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1430", "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:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.1411.1411", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.1436.1436", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.1443.1443", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.1447.1447", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.1449.1449", "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": "Q8TEK3-2.1436.1436", "start_pos": 1436, "end_pos": 1436, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "REVDLKNGHNLFISAAAVPP", "down_seq": "SLLSGPGLAPAASSAGGAAS", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226827", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1436", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.1430.1430", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.1443.1443", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.1447.1447", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.1449.1449", "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": "Q8TEK3-2.1443.1443", "start_pos": 1443, "end_pos": 1443, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GHNLFISAAAVPPGSLLSGP", "down_seq": "LAPAASSAGGAASSAQTHRS", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "2226848", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1443", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.1430.1430", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.1436.1436", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.1447.1447", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.1449.1449", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1447.1447", "start_pos": 1447, "end_pos": 1447, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FISAAAVPPGSLLSGPGLAP", "down_seq": "ASSAGGAASSAQTHRSFLGP", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226861", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1447", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.1430.1430", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.1436.1436", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.1443.1443", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.1449.1449", "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": "Q8TEK3-2.1486.1486", "start_pos": 1486, "end_pos": 1486, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1324489309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324489309", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1324489309", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324489309#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1324489309", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324489309", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GPFPPGPQFALGPMSLQANL", "down_seq": "SVAGSSVLQSLFSSVPAAAG", "snv": [ { "evidence": [ { "id": "rs1324489309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324489309" }, { "id": "rs1324489309", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324489309#frequency_tab" }, { "id": "rs1324489309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324489309" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "19", "chr_pos": "2226977", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1486", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.1487.1487", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1487.1487", "start_pos": 1487, "end_pos": 1487, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PFPPGPQFALGPMSLQANLG", "down_seq": "VAGSSVLQSLFSSVPAAAGL", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2226981", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1487", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.1486.1486", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.1509.1509", "start_pos": 1509, "end_pos": 1509, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "AGSSVLQSLFSSVPAAAGLV", "down_seq": "VSSAATRLTNSHAMGSFSGV", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HVS->NVS).", "chr_id": "19", "chr_pos": "2227046", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H1509", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.1511.1511", "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": "Q8TEK3-2.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EIKMTDDDLFVDLGSGVGQV", "down_seq": "LQVAAATNCKHHYGVEKADI", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2193703", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V170", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8TEK3-2.163.165", "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": "Q8TEK3-2.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "EKADIPAKYAETMDREFRKW", "down_seq": "KWYGKKHAEYTLERGDFLSE", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2194544", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M206", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKHAEYTLERGDFLSEEWRE", "down_seq": "IANTSVIFVNNFAFGPEVDH", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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": "19", "chr_pos": "2199923", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R231", "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: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.243.243", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FLSEEWRERIANTSVIFVNN", "down_seq": "AFGPEVDHQLKERFANMKEG", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNF->NNC).", "chr_id": "19", "chr_pos": "2202720", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F243", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.231.231", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.241.241", "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": "Q8TEK3-2.302.302", "start_pos": 302, "end_pos": 302, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "RNLSDIGTIMRVVELSPLKG", "down_seq": "VSWTGKPVSYYLHTIDRTIL", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2207622", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S302", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser302" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.306.306", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.312.312", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.318.318", "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": "Q8TEK3-2.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "LSDIGTIMRVVELSPLKGSV", "down_seq": "WTGKPVSYYLHTIDRTILEN", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2207628", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S304", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser304" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.306.306", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.312.312", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.318.318", "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": "Q8TEK3-2.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "SDIGTIMRVVELSPLKGSVS", "down_seq": "TGKPVSYYLHTIDRTILENY", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2207632", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W305", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.306.306", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.312.312", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.318.318", "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": "Q8TEK3-2.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144815302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144815302", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144815302", "url": "https://www.ensembl.org/id/rs2144815302", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PLKGSVSWTGKPVSYYLHTI", "down_seq": "RTILENYFSSLKNPKLREEQ", "snv": [ { "evidence": [ { "id": "rs2144815302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144815302" }, { "id": "rs2144815302", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144815302" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRT->NRT).", "chr_id": "19", "chr_pos": "2207669", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D318", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.306.306", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.312.312", "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": "Q8TEK3-2.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LENYFSSLKNPKLREEQEAA", "down_seq": "RRQQRESKSNAATPTKGPEG", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2210418", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R342", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.354.354", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2144829313", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144829313", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144829313", "url": "https://www.ensembl.org/id/rs2144829313", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LREEQEAARRRQQRESKSNA", "down_seq": "TPTKGPEGKVAGPADAPMDS", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" }, { "id": "rs2144829313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144829313" }, { "id": "rs2144829313", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144829313" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "19", "chr_pos": "2210454", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A354", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.342.342", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.374.374", "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": "Q8TEK3-2.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EGKVAGPADAPMDSGAEEEK", "down_seq": "GAATVKKPSPSKARKKKLNK", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "2053", "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": "2210645", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A381", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.374.374", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.395.395", "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": "Q8TEK3-2.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GAEEEKAGAATVKKPSPSKA", "down_seq": "KKKLNKKGRKMAGRKRGRPK", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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": "19", "chr_pos": "2210688", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R395", "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: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.381.381", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.409.409", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.411.411", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.412.412", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8TEK3-2.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PSPSKARKKKLNKKGRKMAG", "down_seq": "KRGRPKKMNTANPERKPKKN", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "2210729", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R409", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.395.395", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.411.411", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.412.412", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.413.413", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.420.420", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PSKARKKKLNKKGRKMAGRK", "down_seq": "GRPKKMNTANPERKPKKNQT", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2210736", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R411", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.395.395", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.409.409", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.412.412", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.413.413", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.420.420", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SKARKKKLNKKGRKMAGRKR", "down_seq": "RPKKMNTANPERKPKKNQTA", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "2210738", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G412", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.395.395", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.409.409", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.411.411", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.413.413", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.420.420", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KARKKKLNKKGRKMAGRKRG", "down_seq": "PKKMNTANPERKPKKNQTAL", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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 (4).", "chr_id": "19", "chr_pos": "2210742", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R413", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8TEK3-2.395.395", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.409.409", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.411.411", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.412.412", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.420.420", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.420.420", "start_pos": 420, "end_pos": 420, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144832629", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144832629", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144832629", "url": "https://www.ensembl.org/id/rs2144832629", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NKKGRKMAGRKRGRPKKMNT", "down_seq": "NPERKPKKNQTALDALHAQT", "snv": [ { "evidence": [ { "id": "rs2144832629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144832629" }, { "id": "rs2144832629", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144832629" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "19", "chr_pos": "2210762", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A420", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.409.409", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.411.411", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.412.412", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.413.413", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8TEK3-2.435.435", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.440.440", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.435.435", "start_pos": 435, "end_pos": 435, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KKMNTANPERKPKKNQTALD", "down_seq": "LHAQTVSQTAASSPQDAYRS", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2210808", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A435", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8TEK3-2.420.420", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8TEK3-2.440.440", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.445.445", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.448.448", "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": "Q8TEK3-2.440.440", "start_pos": 440, "end_pos": 440, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144833571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144833571", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144833571", "url": "https://www.ensembl.org/id/rs2144833571", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ANPERKPKKNQTALDALHAQ", "down_seq": "VSQTAASSPQDAYRSPHSPF", "snv": [ { "evidence": [ { "id": "rs2144833571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144833571" }, { "id": "rs2144833571", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144833571" } ], "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 (TVS->NVS).", "chr_id": "19", "chr_pos": "2210823", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T440", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.420.420", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8TEK3-2.435.435", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8TEK3-2.445.445", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.448.448", "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": "Q8TEK3-2.445.445", "start_pos": 445, "end_pos": 445, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KPKKNQTALDALHAQTVSQT", "down_seq": "ASSPQDAYRSPHSPFYQLPP", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2210838", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A445", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.435.435", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8TEK3-2.440.440", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.465.465", "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": "Q8TEK3-2.465.465", "start_pos": 465, "end_pos": 465, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AASSPQDAYRSPHSPFYQLP", "down_seq": "SVQRHSPNPLLVAPTPPALQ", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "2211141", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P465", "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:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.445.445", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.471.471", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8TEK3-2.480.480", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.591.591", "start_pos": 591, "end_pos": 591, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776577348", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776577348", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776577348", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776577348", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776577348", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776577348#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs776577348", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776577348", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ISAHNQQLREQSEQLEQDNR", "down_seq": "LRGQSLQLLKARCEELQLDW", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" }, { "id": "rs776577348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776577348" }, { "id": "rs776577348", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776577348" }, { "id": "rs776577348", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776577348#frequency_tab" }, { "id": "rs776577348", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776577348" } ], "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 (NRA->NRT).", "chr_id": "19", "chr_pos": "2213960", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A591", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.572.572", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8TEK3-2.596.596", "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": "Q8TEK3-2.660.660", "start_pos": 660, "end_pos": 660, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144865482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144865482", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144865482", "url": "https://www.ensembl.org/id/rs2144865482", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LQISIVELEKSQRQQELLQL", "down_seq": "SCVPPDDALSLHLRGKGALG", "snv": [ { "evidence": [ { "id": "rs2144865482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144865482" }, { "id": "rs2144865482", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144865482" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSC->NSC).", "chr_id": "19", "chr_pos": "2216337", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K660", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.686.686", "start_pos": 686, "end_pos": 686, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144866373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144866373", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144866373", "url": "https://www.ensembl.org/id/rs2144866373", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DDALSLHLRGKGALGRELEP", "down_seq": "ASRLHLELDCTKFSLPHLSS", "snv": [ { "evidence": [ { "id": "rs2144866373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144866373" }, { "id": "rs2144866373", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144866373" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "19", "chr_pos": "2216413", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D686", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.703.703", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.706.706", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.703.703", "start_pos": 703, "end_pos": 703, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LEPDASRLHLELDCTKFSLP", "down_seq": "LSSMSPELSMNGQAAGYELC", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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 (HLS->NLS).", "chr_id": "19", "chr_pos": "2216464", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H703", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.686.686", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.706.706", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.706.706", "start_pos": 706, "end_pos": 706, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754417726", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754417726", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754417726", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754417726", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754417726", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754417726#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754417726", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754417726", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DASRLHLELDCTKFSLPHLS", "down_seq": "MSPELSMNGQAAGYELCGVL", "snv": [ { "evidence": [ { "id": "rs754417726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754417726" }, { "id": "rs754417726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754417726" }, { "id": "rs754417726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754417726#frequency_tab" }, { "id": "rs754417726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754417726" } ], "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 (SMS->NMS).", "chr_id": "19", "chr_pos": "2216474", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S706", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.686.686", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.703.703", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.735.735", "start_pos": 735, "end_pos": 735, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GQAAGYELCGVLSRPSSKQN", "down_seq": "PQYLASPLDQEVVPCTPSHV", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "2216561", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T735", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.736.736", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.736.736", "start_pos": 736, "end_pos": 736, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778964553", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778964553", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778964553", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778964553", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778964553", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778964553#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778964553", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778964553", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QAAGYELCGVLSRPSSKQNT", "down_seq": "QYLASPLDQEVVPCTPSHVG", "snv": [ { "evidence": [ { "id": "rs778964553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778964553" }, { "id": "rs778964553", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778964553" }, { "id": "rs778964553", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778964553#frequency_tab" }, { "id": "rs778964553", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778964553" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "19", "chr_pos": "2216563", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P736", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.735.735", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.759.759", "start_pos": 759, "end_pos": 759, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LASPLDQEVVPCTPSHVGRP", "down_seq": "LEKLSGLAAPDYTRLSPAKI", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2216632", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R759", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.770.770", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.771.771", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.772.772", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.775.775", "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": "Q8TEK3-2.770.770", "start_pos": 770, "end_pos": 770, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs781254082", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781254082", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781254082", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781254082", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781254082", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781254082#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781254082", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781254082", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "CTPSHVGRPRLEKLSGLAAP", "down_seq": "YTRLSPAKIVLRRHLSQDHT", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" }, { "id": "rs781254082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781254082" }, { "id": "rs781254082", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781254082" }, { "id": "rs781254082", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781254082#frequency_tab" }, { "id": "rs781254082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781254082" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DYT->NYT).", "chr_id": "19", "chr_pos": "2216665", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D770", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.759.759", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.771.771", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.772.772", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8TEK3-2.775.775", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.784.784", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.786.786", "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": "Q8TEK3-2.784.784", "start_pos": 784, "end_pos": 784, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144869757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144869757", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144869757", "url": "https://www.ensembl.org/id/rs2144869757", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SGLAAPDYTRLSPAKIVLRR", "down_seq": "LSQDHTVPGRPAASELHSRA", "snv": [ { "evidence": [ { "id": "rs2144869757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144869757" }, { "id": "rs2144869757", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144869757" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "19", "chr_pos": "2216707", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H784", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.770.770", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.771.771", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.772.772", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.775.775", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.786.786", "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": "Q8TEK3-2.813.813", "start_pos": 813, "end_pos": 813, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GRPAASELHSRAEHTKENGL", "down_seq": "YQSPSVPGSMKLSPQDPRPL", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2216984", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P813", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID: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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.822.822", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.824.824", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.826.826", "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": "Q8TEK3-2.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1424693756", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424693756", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1424693756", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424693756", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IDYDTKSFESMQRLCDKYNR", "down_seq": "IDSIHQLWKGTTQPMKLNTR", "snv": [ { "evidence": [ { "id": "rs1424693756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424693756" }, { "id": "rs1424693756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424693756" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "19", "chr_pos": "2189772", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A81", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.78.78", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.84.84", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.90.90", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.824.824", "start_pos": 824, "end_pos": 824, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144872618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144872618", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144872618", "url": "https://www.ensembl.org/id/rs2144872618", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AEHTKENGLPYQSPSVPGSM", "down_seq": "LSPQDPRPLSPGALQLAGEK", "snv": [ { "evidence": [ { "id": "rs2144872618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144872618" }, { "id": "rs2144872618", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144872618" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "19", "chr_pos": "2217018", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K824", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.813.813", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.822.822", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.826.826", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.834.834", "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": "Q8TEK3-2.853.853", "start_pos": 853, "end_pos": 853, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LSPGALQLAGEKSSEKGLRE", "down_seq": "AYGSSGELITSLPISIPLST", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2217784", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R853", "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:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.834.834", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.856.856", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.856.856", "start_pos": 856, "end_pos": 856, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GALQLAGEKSSEKGLRERAY", "down_seq": "SSGELITSLPISIPLSTVQP", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2217793", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G856", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.853.853", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.90.90", "start_pos": 90, "end_pos": 90, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SMQRLCDKYNRAIDSIHQLW", "down_seq": "GTTQPMKLNTRPSTGLLRHI", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "19", "chr_pos": "2191017", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K90", "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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.78.78", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.84.84", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8TEK3-2.108.108", "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": "Q8TEK3-2.919.919", "start_pos": 919, "end_pos": 919, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "STPSPVLQPRDPSSTLEKQI", "down_seq": "ANAHGAGSRSLALAPAGFSY", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "2220171", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G919", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.899.899", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.900.900", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.902.902", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.927.927", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q8TEK3-2.927.927", "start_pos": 927, "end_pos": 927, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1006681079", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1006681079", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1006681079", "url": "https://www.ensembl.org/id/rs1006681079", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRDPSSTLEKQIGANAHGAG", "down_seq": "RSLALAPAGFSYAGSVAISG", "snv": [ { "evidence": [ { "id": "rs1006681079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1006681079" }, { "id": "rs1006681079", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1006681079" } ], "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 (SRS->NRS).", "chr_id": "19", "chr_pos": "2220196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S927", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.919.919", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TEK3-2.995.995", "start_pos": 995, "end_pos": 995, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TEK3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FATVGSRSSTPQHPLLLAQP", "down_seq": "NSLPASPAHQLSSSPRLGGA", "snv": [ { "evidence": [ { "id": "Q8TEK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TEK3" } ], "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": "19", "chr_pos": "2222152", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R995", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.984.984", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.997.997", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.1001.1001", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.1007.1007", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.1008.1008", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.1009.1009", "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": "Q8TEK3-2.1001.1001", "start_pos": 1001, "end_pos": 1001, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry.", "journal": "Nature communications", "date": "2016-11-21", "authors": "Bassani-Sternberg Michal, Br\u00e4unlein Eva, Klar Richard, Engleitner Thomas, Sinitcyn Pavel, Audehm Stefan, Straub Melanie, Weber Julia, Slotta-Huspenina Julia, Specht Katja, Martignoni Marc E, Werner Angelika, Hein R\u00fcdiger, H Busch Dirk, Peschel Christian, Rad Roland, Cox J\u00fcrgen, Mann Matthias, Krackhardt Angela M", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ] }, { "title": "A Molecular Basis for the Presentation of Phosphorylated Peptides by HLA-B Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2017-02", "authors": "Alp\u00edzar Ad\u00e1n, Marino Fabio, Ramos-Fern\u00e1ndez Antonio, Lombard\u00eda Manuel, Jeko Anita, Pazos Florencio, Paradela Alberto, Santiago C\u00e9sar, Heck Albert J R, Marcilla Miguel", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" } ] }, { "title": "Immunopeptidomic Analysis Reveals That Deamidated HLA-bound Peptides Arise Predominantly from Deglycosylated Precursors.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-07", "authors": "Mei Shutao, Ayala Rochelle, Ramarathinam Sri H, Illing Patricia T, Faridi Pouya, Song Jiangning, Purcell Anthony W, Croft Nathan P", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "IEDB", "id": "163850", "url": "https://www.iedb.org/epitope/163850" }, { "database": "IEDB", "id": "430488", "url": "https://www.iedb.org/epitope/430488" }, { "database": "IEDB", "id": "446288", "url": "https://www.iedb.org/epitope/446288" }, { "database": "IEDB", "id": "544258", "url": "https://www.iedb.org/epitope/544258" }, { "database": "IEDB", "id": "724849", "url": "https://www.iedb.org/epitope/724849" }, { "database": "IEDB", "id": "1038634", "url": "https://www.iedb.org/epitope/1038634" }, { "database": "IEDB", "id": "1320377", "url": "https://www.iedb.org/epitope/1320377" }, { "database": "IEDB", "id": "1323539", "url": "https://www.iedb.org/epitope/1323539" }, { "database": "IEDB", "id": "1324709", "url": "https://www.iedb.org/epitope/1324709" }, { "database": "IEDB", "id": "1325503", "url": "https://www.iedb.org/epitope/1325503" } ], "reference": [ { "type": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3", "database": "IEDB", "categories": [ "Other" ] }, { "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RSSTPQHPLLLAQPRNSLPA", "down_seq": "PAHQLSSSPRLGGAAQGPLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "IEDB", "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3" }, { "database": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" }, { "database": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" }, { "database": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser1001" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.984.984", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.995.995", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.997.997", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.1007.1007", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.1008.1008", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.1009.1009", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.1007.1007", "start_pos": 1007, "end_pos": 1007, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "HPLLLAQPRNSLPASPAHQL", "down_seq": "SSPRLGGAAQGPLPEASKGD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1007" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.995.995", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.997.997", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.1001.1001", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.1008.1008", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.1009.1009", "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": "Q8TEK3-2.1008.1008", "start_pos": 1008, "end_pos": 1008, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "PLLLAQPRNSLPASPAHQLS", "down_seq": "SPRLGGAAQGPLPEASKGDL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1008" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.995.995", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.997.997", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.1001.1001", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.1007.1007", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.1009.1009", "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": "Q8TEK3-2.1009.1009", "start_pos": 1009, "end_pos": 1009, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLLAQPRNSLPASPAHQLSS", "down_seq": "PRLGGAAQGPLPEASKGDLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser1009" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.995.995", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.997.997", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.1001.1001", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.1007.1007", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.1008.1008", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.1035.1035", "start_pos": 1035, "end_pos": 1035, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "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": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAQGPLPEASKGDLPSDSGF", "down_seq": "DPESEAKRRIVFTITTGAGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "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": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1035" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.1048.1048", "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": "Q8TEK3-2.1059.1059", "start_pos": 1059, "end_pos": 1059, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "SEAKRRIVFTITTGAGSAKQ", "down_seq": "PSSKHSPLTASARGDCVPSH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1059" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.1048.1048", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.1057.1057", "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": "Q8TEK3-2.1093.1093", "start_pos": 1093, "end_pos": 1093, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GDCVPSHGQDSRRRGRRKRA", "down_seq": "AGTPSLSAGVSPKRRALPSV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "site_lbl": "Ser1093" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.1096.1096", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.1100.1100", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.1103.1103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.1104.1104", "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": "Q8TEK3-2.1100.1100", "start_pos": 1100, "end_pos": 1100, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "GQDSRRRGRRKRASAGTPSL", "down_seq": "AGVSPKRRALPSVAGLFTQP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1100" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.1093.1093", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.1096.1096", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.1103.1103", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.1104.1104", "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": "Q8TEK3-2.1104.1104", "start_pos": 1104, "end_pos": 1104, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RRRGRRKRASAGTPSLSAGV", "down_seq": "PKRRALPSVAGLFTQPSGSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser1104" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.1093.1093", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.1096.1096", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.1100.1100", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.1103.1103", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.1148.1148", "start_pos": 1148, "end_pos": 1148, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "IEDB", "id": "568325", "url": "https://www.iedb.org/epitope/568325" }, { "database": "IEDB", "id": "613657", "url": "https://www.iedb.org/epitope/613657" }, { "database": "IEDB", "id": "1038634", "url": "https://www.iedb.org/epitope/1038634" }, { "database": "IEDB", "id": "1370624", "url": "https://www.iedb.org/epitope/1370624" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NSMVSNINQPLEITAISSPE", "down_seq": "SLKSSPVPYQDHDQPPVLKK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Thr1148" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.1135.1135", "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": "Q8TEK3-2.1213.1213", "start_pos": 1213, "end_pos": 1213, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "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": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DEPSSARIERKIATISLESK", "down_seq": "PPKTLENGGGLAGRKPAPAG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "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": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "site_lbl": "Ser1213" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.1204.1204", "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": "Q8TEK3-2.1246.1246", "start_pos": 1246, "end_pos": 1246, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRKPAPAGEPVNSSKWKSTF", "down_seq": "PISDIGLAKSADSPLQASSA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser1246" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.1242.1242", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.1259.1259", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.1260.1260", "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": "Q8TEK3-2.1259.1259", "start_pos": 1259, "end_pos": 1259, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "SKWKSTFSPISDIGLAKSAD", "down_seq": "PLQASSALSQNSLFTFRPAL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser1259" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.1242.1242", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.1246.1246", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.1260.1260", "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": "Q8TEK3-2.1348.1348", "start_pos": 1348, "end_pos": 1348, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "LHSFSDGASLPHKGPEAAGL", "down_seq": "SPLSFPSQRGKEGSDANPFL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1348" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8TEK3-2.1330.1330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.1355.1355", "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": "Q8TEK3-2.1355.1355", "start_pos": 1355, "end_pos": 1355, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "ASLPHKGPEAAGLSSPLSFP", "down_seq": "QRGKEGSDANPFLSKRQLDG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1355" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8TEK3-2.1348.1348", "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": "Q8TEK3-2.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "RIVSSKPFAPLNFRINSRNL", "down_seq": "DIGTIMRVVELSPLKGSVSW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser285" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8TEK3-2.270.270", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.305.305", "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": "Q8TEK3-2.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "SKPFAPLNFRINSRNLSDIG", "down_seq": "IMRVVELSPLKGSVSWTGKP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr289" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8TEK3-2.270.270", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.306.306", "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": "Q8TEK3-2.297.297", "start_pos": 297, "end_pos": 297, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FRINSRNLSDIGTIMRVVEL", "down_seq": "PLKGSVSWTGKPVSYYLHTI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser297" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.306.306", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8TEK3-2.312.312", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "DIGTIMRVVELSPLKGSVSW", "down_seq": "GKPVSYYLHTIDRTILENYF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr306" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.297.297", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.302.302", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.304.304", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.305.305", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.312.312", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.318.318", "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": "Q8TEK3-2.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "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": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ATPTKGPEGKVAGPADAPMD", "down_seq": "GAEEEKAGAATVKKPSPSKA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser374" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.354.354", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8TEK3-2.381.381", "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": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "KNQTALDALHAQTVSQTAAS", "down_seq": "PQDAYRSPHSPFYQLPPSVQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser448" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.435.435", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.440.440", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.445.445", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.465.465", "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": "Q8TEK3-2.471.471", "start_pos": 471, "end_pos": 471, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "DAYRSPHSPFYQLPPSVQRH", "down_seq": "PNPLLVAPTPPALQKLLESF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser471" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.465.465", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.480.480", "categories": [ "glycosylation_flag", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.572.572", "start_pos": 572, "end_pos": 572, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "DELGVKALTYNDLIQAQKEI", "down_seq": "AHNQQLREQSEQLEQDNRAL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser572" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.591.591", "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": "Q8TEK3-2.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QQLREQSEQLEQDNRALRGQ", "down_seq": "LQLLKARCEELQLDWATLSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser596" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8TEK3-2.591.591", "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": "Q8TEK3-2.771.771", "start_pos": 771, "end_pos": 771, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TPSHVGRPRLEKLSGLAAPD", "down_seq": "TRLSPAKIVLRRHLSQDHTV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr771" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.759.759", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.770.770", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.772.772", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.775.775", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.784.784", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8TEK3-2.786.786", "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": "Q8TEK3-2.772.772", "start_pos": 772, "end_pos": 772, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "IEDB", "id": "568325", "url": "https://www.iedb.org/epitope/568325" }, { "database": "IEDB", "id": "613657", "url": "https://www.iedb.org/epitope/613657" }, { "database": "IEDB", "id": "1038634", "url": "https://www.iedb.org/epitope/1038634" }, { "database": "IEDB", "id": "1370624", "url": "https://www.iedb.org/epitope/1370624" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSHVGRPRLEKLSGLAAPDY", "down_seq": "RLSPAKIVLRRHLSQDHTVP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Thr772" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.759.759", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.770.770", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.771.771", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.775.775", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.784.784", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8TEK3-2.786.786", "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": "Q8TEK3-2.775.775", "start_pos": 775, "end_pos": 775, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VGRPRLEKLSGLAAPDYTRL", "down_seq": "PAKIVLRRHLSQDHTVPGRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "site_lbl": "Ser775" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.759.759", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8TEK3-2.770.770", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.771.771", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.772.772", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8TEK3-2.784.784", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.786.786", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.786.786", "start_pos": 786, "end_pos": 786, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "LAAPDYTRLSPAKIVLRRHL", "down_seq": "QDHTVPGRPAASELHSRAEH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser786" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8TEK3-2.770.770", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8TEK3-2.771.771", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8TEK3-2.772.772", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8TEK3-2.775.775", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.784.784", "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": "Q8TEK3-2.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YVLIDYDTKSFESMQRLCDK", "down_seq": "NRAIDSIHQLWKGTTQPMKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr78" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.84.84", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.90.90", "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": "Q8TEK3-2.822.822", "start_pos": 822, "end_pos": 822, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "SRAEHTKENGLPYQSPSVPG", "down_seq": "MKLSPQDPRPLSPGALQLAG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser822" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8TEK3-2.813.813", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.824.824", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.826.826", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.834.834", "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": "Q8TEK3-2.826.826", "start_pos": 826, "end_pos": 826, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HTKENGLPYQSPSVPGSMKL", "down_seq": "PQDPRPLSPGALQLAGEKSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser826" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.813.813", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8TEK3-2.822.822", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.824.824", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8TEK3-2.834.834", "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": "Q8TEK3-2.834.834", "start_pos": 834, "end_pos": 834, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "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": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YQSPSVPGSMKLSPQDPRPL", "down_seq": "PGALQLAGEKSSEKGLRERA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser834" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8TEK3-2.822.822", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8TEK3-2.824.824", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8TEK3-2.826.826", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.853.853", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "DTKSFESMQRLCDKYNRAID", "down_seq": "IHQLWKGTTQPMKLNTRPST", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser84" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8TEK3-2.78.78", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8TEK3-2.90.90", "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": "Q8TEK3-2.899.899", "start_pos": 899, "end_pos": 899, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "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": "LPVSIPLASVVLPSRAERAR", "down_seq": "TPSPVLQPRDPSSTLEKQIG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser899" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8TEK3-2.882.882", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8TEK3-2.900.900", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TEK3-2.902.902", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8TEK3-2.919.919", "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": "Q8TEK3-2.900.900", "start_pos": 900, "end_pos": 900, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PVSIPLASVVLPSRAERARS", "down_seq": "PSPVLQPRDPSSTLEKQIGA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Thr900" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8TEK3-2.882.882", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8TEK3-2.899.899", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8TEK3-2.902.902", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8TEK3-2.919.919", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.902.902", "start_pos": 902, "end_pos": 902, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SIPLASVVLPSRAERARSTP", "down_seq": "PVLQPRDPSSTLEKQIGANA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser902" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8TEK3-2.882.882", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8TEK3-2.899.899", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.900.900", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.919.919", "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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8TEK3-2.957.957", "start_pos": 957, "end_pos": 957, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FSYAGSVAISGALAGSPASL", "down_seq": "PGAEPATLDESSSSGSLFAT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8TEK3", "url": "https://www.iedb.org/epitope/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Thr957" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "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": "Q8TEK3-2.984.984", "start_pos": 984, "end_pos": 984, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "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": "TLDESSSSGSLFATVGSRSS", "down_seq": "PQHPLLLAQPRNSLPASPAH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by MAPK11", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Thr984" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.995.995", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8TEK3-2.997.997", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8TEK3-2.1001.1001", "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": "Q8TEK3-2.997.997", "start_pos": 997, "end_pos": 997, "uniprot_canonical_ac": "Q8TEK3-2", "length": 1537, "uniprot_id": "DOT1L_HUMAN", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "refseq_ac": "NP_115871", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "gene_name": "DOT1L", "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" } ], "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": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "iPTMnet", "id": "Q8TEK3-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3", "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": "TVGSRSSTPQHPLLLAQPRN", "down_seq": "LPASPAHQLSSSPRLGGAAQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8TEK3", "url": "https://www.uniprot.org/uniprotkb/Q8TEK3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8TEK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEK3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser997" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "882", "end_pos": "882" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "163", "end_pos": "165" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "312", "end_pos": "312" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1103", "end_pos": "1103" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1260", "end_pos": "1260" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1319", "end_pos": "1319" }, { "start_pos": "1330", "end_pos": "1330" }, { "start_pos": "1411", "end_pos": "1411" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1443", "end_pos": "1443" }, { "start_pos": "1447", "end_pos": "1447" }, { "start_pos": "1449", "end_pos": "1449" }, { "start_pos": "1486", "end_pos": "1486" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1509", "end_pos": "1509" }, { "start_pos": "1511", "end_pos": "1511" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "703", "end_pos": "703" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "736", "end_pos": "736" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "813", "end_pos": "813" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "853", "end_pos": "853" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "927", "end_pos": "927" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1008", "end_pos": "1008" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1059", "end_pos": "1059" }, { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "772", "end_pos": "772" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "822", "end_pos": "822" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "900", "end_pos": "900" }, { "start_pos": "902", "end_pos": "902" }, { "start_pos": "957", "end_pos": "957" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "997", "end_pos": "997" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8TEK3-2.984.984", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8TEK3-2.995.995", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8TEK3-2.1001.1001", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8TEK3-2.1007.1007", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8TEK3-2.1008.1008", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8TEK3-2.1009.1009", "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": "Q16666-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "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": "rs761050302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761050302", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761050302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761050302", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761050302", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761050302#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761050302", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761050302", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DATSPAPSTSSTVKTEGAEA", "down_seq": "PGAQKRKKSTKEKAGPKGSK", "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": "Thr123", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs761050302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761050302" }, { "id": "rs761050302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761050302" }, { "id": "rs761050302", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761050302#frequency_tab" }, { "id": "rs761050302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761050302" } ], "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": "159015973", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T123", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16666-1.106.106", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16666-1.128.128", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16666-1.128.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16666-1.132.132", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q16666-1.143.143", "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": "Q16666-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1263", "url": "https://glyconnect.expasy.org/browser/proteins/1263" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] } ], "crossref": [ { "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1263", "url": "https://glyconnect.expasy.org/browser/proteins/1263", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "id": "rs377253353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377253353", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377253353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377253353", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377253353", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377253353", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs377253353", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377253353", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GMSTAMGRSPSPKTSLSAPP", "down_seq": "SSSTENPKTVAKCQVTPRRN", "glycosylation": [ { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1263", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1263" } ] } ], "snv": [ { "evidence": [ { "id": "rs377253353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377253353" }, { "id": "rs377253353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377253353" }, { "id": "rs377253353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377253353" }, { "id": "rs377253353", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377253353" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "1", "chr_pos": "159016684", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N178", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q16666-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q16666-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16666-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16666-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16666-1.180.180", "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": "Q16666-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" }, { "database": "O-GlcNAc Atlas", "id": "Q16666", "url": "https://oglcnac.org/atlas/detail/Q16666" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666", "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" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "https://oglcnac.org/atlas/detail/Q16666", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1571894684", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571894684", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1571894684", "url": "https://www.ensembl.org/id/rs1571894684", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILKEGSHFPGPFMTSIGPAE", "down_seq": "HPHTPQMPPSTPSSSFLTTL", "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": "Ser536", "evidence": [ { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q16666", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" }, { "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" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q16666", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q16666" } ] } ], "snv": [ { "evidence": [ { "id": "rs1571894684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571894684" }, { "id": "rs1571894684", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571894684" } ], "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": "1", "chr_pos": "159049540", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S536", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q16666-1.540.540", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16666-1.549.549", "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "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": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" }, { "database": "O-GlcNAc Atlas", "id": "Q16666", "url": "https://oglcnac.org/atlas/detail/Q16666" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666", "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" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "https://oglcnac.org/atlas/detail/Q16666", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1655214378", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655214378", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1655214378", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655214378#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GSHFPGPFMTSIGPAESHPH", "down_seq": "PQMPPSTPSSSFLTTLKPRL", "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": "Thr540", "evidence": [ { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q16666", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16666" }, { "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" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q16666", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q16666" } ] } ], "snv": [ { "evidence": [ { "id": "rs1655214378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655214378" }, { "id": "rs1655214378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655214378#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": "159049552", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T540", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q16666-1.536.536", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16666-1.549.549", "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "APSTSSTVKTEGAEATPGAQ", "down_seq": "RKKSTKEKAGPKGSKVSEEQ", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Predominant cytoplasmic, reduces nuclear localization (mimics non-acetylated state).", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Minor effect on nuclear localization (mimics acetylated state).", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 0, "direction": "upstream", "id": "Q16666-1.128.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.132.132", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q16666-1.143.143", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.128.131", "start_pos": 128, "end_pos": 131, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KRKK", "start_aa": "K", "up_seq": "APSTSSTVKTEGAEATPGAQ", "down_seq": "STKEKAGPKGSKVSEEQTQP", "mutagenesis": [ { "sequence_org": "KRKK", "sequence_mut": "", "comment": "Predominant nuclear, some cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 0, "direction": "downstream", "id": "Q16666-1.128.128", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q16666-1.132.132", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16666-1.143.143", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.134.136", "start_pos": 134, "end_pos": 136, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KEK", "start_aa": "K", "up_seq": "TVKTEGAEATPGAQKRKKST", "down_seq": "AGPKGSKVSEEQTQPPSPAG", "mutagenesis": [ { "sequence_org": "KEK", "sequence_mut": "", "comment": "Mostly nuclear, minor cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16666-1.128.128", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16666-1.128.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16666-1.132.132", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q16666-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16666-1.153.153", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.140.143", "start_pos": 140, "end_pos": 143, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KGSK", "start_aa": "K", "up_seq": "AEATPGAQKRKKSTKEKAGP", "down_seq": "VSEEQTQPPSPAGAGMSTAM", "mutagenesis": [ { "sequence_org": "KGSK", "sequence_mut": "", "comment": "Mostly nuclear, minor cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q16666-1.128.128", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16666-1.128.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16666-1.132.132", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "Q16666-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16666-1.153.153", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Interferon-inducible protein 16: insight into the interaction with tumor suppressor p53.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Liao JC, Lam R, Brazda V, Duan S, Ravichandran M, Ma J, Xiao T, Tempel W, Zuo X, Wang YX, Chirgadze NY, Arrowsmith CH", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NVLQKRPVIVKVLSTTKPFE", "down_seq": "ETPEMEKKIMFHATVATQTQ", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes TP53-mediated transcriptional activation; when associated with A-267.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q16666-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.222.222", "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": "Q16666-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Interferon-inducible protein 16: insight into the interaction with tumor suppressor p53.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Liao JC, Lam R, Brazda V, Duan S, Ravichandran M, Ma J, Xiao T, Tempel W, Zuo X, Wang YX, Chirgadze NY, Arrowsmith CH", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KRPVIVKVLSTTKPFEYETP", "down_seq": "MEKKIMFHATVATQTQFFHV", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes TP53-mediated transcriptional activation; when associated with A-272.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q16666-1.218.218", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16666-1.220.220", "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": "Q16666-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Interferon-inducible protein 16: insight into the interaction with tumor suppressor p53.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Liao JC, Lam R, Brazda V, Duan S, Ravichandran M, Ma J, Xiao T, Tempel W, Zuo X, Wang YX, Chirgadze NY, Arrowsmith CH", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TSLKEKFNGKKIIIISDYLE", "down_seq": "DSLLEVNEESTVSEAGPNQT", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes TP53-mediated transcriptional activation; when associated with A-218.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YDS->NDS).", "chr_id": "1", "chr_pos": "159018478", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y267", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16666-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16666-1.272.272", "categories": [ "mutagenesis_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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "Q16666-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Interferon-inducible protein 16: insight into the interaction with tumor suppressor p53.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Liao JC, Lam R, Brazda V, Duan S, Ravichandran M, Ma J, Xiao T, Tempel W, Zuo X, Wang YX, Chirgadze NY, Arrowsmith CH", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KFNGKKIIIISDYLEYDSLL", "down_seq": "VNEESTVSEAGPNQTFEVPN", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes TP53-mediated transcriptional activation; when associated with A-222.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "21397192", "url": "https://glygen.org/publication/PubMed/21397192" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q16666-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16666-1.267.267", "categories": [ "mutagenesis_flag", "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": "Q16666-1.627.627", "start_pos": 627, "end_pos": 627, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ENEVFRVKVFNIDLKEKFTP", "down_seq": "KIIAIANYVCRNGFLEVYPF", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-663; A-667; A-670; A-674; A-732; A-734 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q16666-1.641.641", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q16666-1.643.643", "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": "Q16666-1.663.663", "start_pos": 663, "end_pos": 663, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EVYPFTLVADVNADRNMEIP", "down_seq": "GLIRSASVTPKINQLCSQTK", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-667; A-670; A-674; A-732; A-734 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q16666-1.643.643", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.667.667", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q16666-1.670.670", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16666-1.674.674", "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": "Q16666-1.667.667", "start_pos": 667, "end_pos": 667, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FTLVADVNADRNMEIPKGLI", "down_seq": "SASVTPKINQLCSQTKGSFV", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-663; A-670; A-674; A-732; A-734 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q16666-1.663.663", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16666-1.670.670", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q16666-1.674.674", "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": "Q16666-1.670.670", "start_pos": 670, "end_pos": 670, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VADVNADRNMEIPKGLIRSA", "down_seq": "VTPKINQLCSQTKGSFVNGV", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-663; A-667; A-674; A-732; A-734 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q16666-1.663.663", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16666-1.667.667", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.674.674", "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": "Q16666-1.674.674", "start_pos": 674, "end_pos": 674, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NADRNMEIPKGLIRSASVTP", "down_seq": "INQLCSQTKGSFVNGVFEVH", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-663; A-667; A-670; A-732; A-734 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16666-1.663.663", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q16666-1.667.667", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16666-1.670.670", "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": "Q16666-1.732.732", "start_pos": 732, "end_pos": 732, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GKMEVVVHGRLTTINCEEGD", "down_seq": "LKLTCFELAPKSGNTGELRS", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-663; A-667; A-670; A- 674; A-734 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16666-1.723.723", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16666-1.734.734", "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": "Q16666-1.734.734", "start_pos": 734, "end_pos": 734, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MEVVVHGRLTTINCEEGDKL", "down_seq": "LTCFELAPKSGNTGELRSVI", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-663; A-667; A-670; A- 674; A-732 and A-759.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16666-1.723.723", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16666-1.732.732", "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": "Q16666-1.759.759", "start_pos": 759, "end_pos": 759, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.", "journal": "Immunity", "date": "2012", "authors": "Jin T, Perry A, Jiang J, Smith P, Curry JA, Unterholzner L, Jiang Z, Horvath G, Rathinam VA, Johnstone RW, Hornung V, Latz E, Bowie AG, Fitzgerald KA, Xiao TS", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ELAPKSGNTGELRSVIHSHI", "down_seq": "VIKTRKNKKDILNPDSSMET", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs DNA binding; when associated with A-627; A-663; A-667; A-670; A- 674; A-732 and A-734.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22483801", "url": "https://glygen.org/publication/PubMed/22483801" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q16666-1.768.768", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q16666-1.774.774", "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": "Q16666-1.96.100", "start_pos": 96, "end_pos": 100, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RKRKK", "start_aa": "R", "up_seq": "EDLAETLKKEKLKVKGPALS", "down_seq": "EVDATSPAPSTSSTVKTEGA", "mutagenesis": [ { "sequence_org": "RKRKK", "sequence_mut": "", "comment": "Predominant cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q16666-1.95.95", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q16666-1.99.99", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16666-1.106.106", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AETLKKEKLKVKGPALSRKR", "down_seq": "KEVDATSPAPSTSSTVKTEG", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Predominant cytoplasmic, reduces nuclear localization (mimics non-acetylated state).", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Minor effect on nuclear localization (mimics acetylated state).", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q16666-1.95.95", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q16666-1.96.100", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q16666-1.106.106", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1311408005", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311408005", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1311408005", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311408005", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TPGAQKRKKSTKEKAGPKGS", "down_seq": "VSEEQTQPPSPAGAGMSTAM", "snv": [ { "evidence": [ { "id": "rs1311408005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311408005" }, { "id": "rs1311408005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311408005" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "1", "chr_pos": "159016580", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K143", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q16666-1.128.128", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q16666-1.128.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q16666-1.132.132", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16666-1.153.153", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SEEQTQPPSPAGAGMSTAMG", "down_seq": "SPSPKTSLSAPPNSSSTENP", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159016645", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R165", "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" } ] }, { "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q16666-1.153.153", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16666-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16666-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16666-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16666-1.178.178", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q16666-1.180.180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QPPSPAGAGMSTAMGRSPSP", "down_seq": "TSLSAPPNSSSTENPKTVAK", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "1", "chr_pos": "159016661", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K170", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16666-1.153.153", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16666-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16666-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16666-1.178.178", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16666-1.180.180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1652953054", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652953054", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1652953054", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652953054", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "STAMGRSPSPKTSLSAPPNS", "down_seq": "STENPKTVAKCQVTPRRNVL", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" }, { "id": "rs1652953054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652953054" }, { "id": "rs1652953054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652953054" } ], "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 (NSS->NSF).", "chr_id": "1", "chr_pos": "159016690", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S180", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q16666-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q16666-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q16666-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16666-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16666-1.178.178", "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": "Q16666-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LQKRPVIVKVLSTTKPFEYE", "down_seq": "PEMEKKIMFHATVATQTQFF", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159018337", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T220", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q16666-1.218.218", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16666-1.222.222", "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": "Q16666-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760466448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760466448", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760466448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760466448", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760466448", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760466448#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760466448", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760466448", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QTQFFHVKVLNTSLKEKFNG", "down_seq": "KIIIISDYLEYDSLLEVNEE", "snv": [ { "evidence": [ { "id": "rs760466448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760466448" }, { "id": "rs760466448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760466448" }, { "id": "rs760466448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760466448#frequency_tab" }, { "id": "rs760466448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760466448" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGK->NGT).", "chr_id": "1", "chr_pos": "159018446", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K256", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q16666-1.267.267", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q16666-1.272.272", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1653092237", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1653092237", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1653092237", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1653092237#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NEESTVSEAGPNQTFEVPNK", "down_seq": "INRAKETLKIDILHKQASGN", "snv": [ { "evidence": [ { "id": "rs1653092237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1653092237" }, { "id": "rs1653092237", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1653092237#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": "1", "chr_pos": "159018560", "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" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q16666-1.298.298", "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": "Q16666-1.298.298", "start_pos": 298, "end_pos": 298, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TVSEAGPNQTFEVPNKIINR", "down_seq": "KETLKIDILHKQASGNIVYG", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "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 (NRA->NRT).", "chr_id": "1", "chr_pos": "159018571", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A298", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q16666-1.294.294", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs147525533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147525533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147525533", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147525533", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs147525533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147525533", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147525533", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147525533#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147525533", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147525533", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QASGNIVYGVFMLHKKTVNQ", "down_seq": "TTIYEIQDDRGKMDVVGTGQ", "snv": [ { "evidence": [ { "id": "rs147525533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147525533" }, { "id": "rs147525533", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147525533" }, { "id": "rs147525533", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147525533" }, { "id": "rs147525533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147525533#frequency_tab" }, { "id": "rs147525533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147525533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "1", "chr_pos": "159020358", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K330", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q16666-1.335.335", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IVYGVFMLHKKTVNQKTTIY", "down_seq": "IQDDRGKMDVVGTGQCHNIP", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "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 (3).", "chr_id": "1", "chr_pos": "159020371", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E335", "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: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" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q16666-1.330.330", "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": "Q16666-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LEVINDYHFRMVKSLLSNDL", "down_seq": "LNLKMREEYDKIQIADLMEE", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "10", "frequency": "0.6", "sequence_org": "K", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient count (10/1557).", "chr_id": "1", "chr_pos": "159014780", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K34", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q16666-1.38.38", "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": "Q16666-1.368.368", "start_pos": 368, "end_pos": 368, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TGQCHNIPCEEGDKLQLFCF", "down_seq": "LRKKNQMSKLISEMHSFIQI", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159020470", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R368", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NDYHFRMVKSLLSNDLKLNL", "down_seq": "MREEYDKIQIADLMEEKFRG", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "1", "chr_pos": "159014793", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K38", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q16666-1.34.34", "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": "Q16666-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs770614887", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770614887", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770614887", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770614887", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770614887", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770614887#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs770614887", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770614887", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ISEMHSFIQIKKKTNPRNND", "down_seq": "KSMKLPQEQRQLPYPSEAST", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "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 (NDP->NDS).", "chr_id": "1", "chr_pos": "159032557", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P399", "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": "rs770614887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770614887" }, { "id": "rs770614887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770614887" }, { "id": "rs770614887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770614887#frequency_tab" }, { "id": "rs770614887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770614887" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDT).", "chr_id": "1", "chr_pos": "159032557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P399", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q16666-1.418.418", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q16666-1.418.418", "start_pos": 418, "end_pos": 418, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DPKSMKLPQEQRQLPYPSEA", "down_seq": "TTFPESHLRTPQMPPTTPSS", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "1", "chr_pos": "159032615", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S418", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q16666-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.479.479", "start_pos": 479, "end_pos": 479, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QILKEGSHFPGPFMTSIGPA", "down_seq": "SHPHTPQMPPSTPSSSFLTT", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159045402", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E479", "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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.549.549", "start_pos": 549, "end_pos": 549, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs574683364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574683364", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs574683364", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574683364", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs574683364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574683364", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs574683364", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574683364#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs574683364", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574683364", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TSIGPAESHPHTPQMPPSTP", "down_seq": "SSFLTTLKPRLKTEPEEVSI", "snv": [ { "evidence": [ { "id": "rs574683364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574683364" }, { "id": "rs574683364", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574683364" }, { "id": "rs574683364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574683364" }, { "id": "rs574683364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574683364#frequency_tab" }, { "id": "rs574683364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574683364" } ], "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": "1", "chr_pos": "159049580", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "S549", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q16666-1.536.536", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16666-1.540.540", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16666-1.566.566", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.566.566", "start_pos": 566, "end_pos": 566, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "STPSSSFLTTLKPRLKTEPE", "down_seq": "VSIEDSAQSDLKEVMVLNAT", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159051711", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E566", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16666-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16666-1.575.575", "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": "Q16666-1.587.587", "start_pos": 587, "end_pos": 587, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VSIEDSAQSDLKEVMVLNAT", "down_seq": "SFVYEPKEQKKMFHATVATE", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "159051941", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E587", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q16666-1.575.575", "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": "Q16666-1.641.641", "start_pos": 641, "end_pos": 641, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1184668786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184668786", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1184668786", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184668786#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1184668786", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184668786", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KEKFTPKKIIAIANYVCRNG", "down_seq": "LEVYPFTLVADVNADRNMEI", "snv": [ { "evidence": [ { "id": "rs1184668786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184668786" }, { "id": "rs1184668786", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184668786#frequency_tab" }, { "id": "rs1184668786", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184668786" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGF->NGC).", "chr_id": "1", "chr_pos": "159051935", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F641", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q16666-1.627.627", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16666-1.643.643", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16666-1.643.643", "start_pos": 643, "end_pos": 643, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KFTPKKIIAIANYVCRNGFL", "down_seq": "VYPFTLVADVNADRNMEIPK", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "159051941", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E643", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q16666-1.627.627", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16666-1.641.641", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q16666-1.663.663", "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": "Q16666-1.723.723", "start_pos": 723, "end_pos": 723, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16666", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TYYEIQDNTGKMEVVVHGRL", "down_seq": "TINCEEGDKLKLTCFELAPK", "snv": [ { "evidence": [ { "id": "Q16666", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16666" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159054878", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T723", "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": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q16666-1.732.732", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16666-1.734.734", "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": "Q16666-1.768.768", "start_pos": 768, "end_pos": 768, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1571904019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571904019", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1571904019", "url": "https://www.ensembl.org/id/rs1571904019", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GELRSVIHSHIKVIKTRKNK", "down_seq": "DILNPDSSMETSPDFFF", "snv": [ { "evidence": [ { "id": "rs1571904019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571904019" }, { "id": "rs1571904019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571904019" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKK->NKT).", "chr_id": "1", "chr_pos": "159054846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K768", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16666-1.759.759", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16666-1.774.774", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16666-1.780.780", "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": "Q16666-1.774.774", "start_pos": 774, "end_pos": 774, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1201679687", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201679687", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1201679687", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201679687", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IHSHIKVIKTRKNKKDILNP", "down_seq": "SSMETSPDFFF", "snv": [ { "evidence": [ { "id": "rs1201679687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201679687" }, { "id": "rs1201679687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201679687" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "1", "chr_pos": "159054863", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D774", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q16666-1.759.759", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16666-1.768.768", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16666-1.780.780", "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": "Q16666-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] }, { "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KLKVKGPALSRKRKKEVDAT", "down_seq": "PAPSTSSTVKTEGAEATPGA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser106" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16666-1.95.95", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16666-1.96.100", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q16666-1.99.99", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.132.132", "start_pos": 132, "end_pos": 132, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Novel properties of the protein kinase CK2-site-regulated nuclear- localization sequence of the interferon-induced nuclear factor IFI 16.", "journal": "The Biochemical journal", "date": "2001", "authors": "Briggs LJ, Johnstone RW, Elliot RM, Xiao CY, Dawson M, Trapani JA, Jans DA", "evidence": [ { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "11115400", "url": "https://glygen.org/publication/PubMed/11115400" } ] } ], "crossref": [ { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11115400", "url": "https://glygen.org/publication/PubMed/11115400", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSTVKTEGAEATPGAQKRKK", "down_seq": "TKEKAGPKGSKVSEEQTQPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" }, { "database": "PubMed", "id": "11115400", "url": "https://glygen.org/publication/PubMed/11115400" } ], "site_lbl": "Ser132" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16666-1.123.123", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16666-1.128.128", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q16666-1.128.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16666-1.143.143", "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": "Q16666-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] }, { "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "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": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TKEKAGPKGSKVSEEQTQPP", "down_seq": "PAGAGMSTAMGRSPSPKTSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser153" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16666-1.134.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q16666-1.140.143", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q16666-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16666-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q16666-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16666-1.170.170", "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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16666-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QTQPPSPAGAGMSTAMGRSP", "down_seq": "PKTSLSAPPNSSSTENPKTV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser168" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q16666-1.153.153", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16666-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16666-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16666-1.174.174", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16666-1.178.178", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16666-1.180.180", "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": "Q16666-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PAGAGMSTAMGRSPSPKTSL", "down_seq": "APPNSSSTENPKTVAKCQVT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser174" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16666-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16666-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16666-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.178.178", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16666-1.180.180", "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": "Q16666-1.575.575", "start_pos": 575, "end_pos": 575, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "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": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TLKPRLKTEPEEVSIEDSAQ", "down_seq": "DLKEVMVLNATESFVYEPKE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser575" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16666-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16666-1.587.587", "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": "Q16666-1.780.780", "start_pos": 780, "end_pos": 780, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VIKTRKNKKDILNPDSSMET", "down_seq": "PDFFF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser780" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q16666-1.768.768", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16666-1.774.774", "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": "Q16666-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "Q16666-1", "length": 785, "uniprot_id": "IF16_HUMAN", "protein_name": "Gamma-interferon-inducible protein 16", "refseq_ac": "NP_001193496", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "gene_name": "IFI16", "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Acetylation modulates cellular distribution and DNA sensing ability of interferon-inducible protein IFI16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Li T, Diner BA, Chen J, Cristea IM", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "Reactome", "id": "R-HSA-1834941", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1834941" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "reference": [ { "type": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" } ] } ], "crossref": [ { "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEDLAETLKKEKLKVKGPAL", "down_seq": "RKRKKEVDATSPAPSTSSTV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q16666", "url": "https://www.uniprot.org/uniprotkb/Q16666" }, { "database": "PubMed", "id": "22691496", "url": "https://glygen.org/publication/PubMed/22691496" }, { "database": "iPTMnet", "id": "Q16666", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16666" } ], "site_lbl": "Ser95" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "128", "end_pos": "131" }, { "start_pos": "134", "end_pos": "136" }, { "start_pos": "140", "end_pos": "143" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "667", "end_pos": "667" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "732", "end_pos": "732" }, { "start_pos": "734", "end_pos": "734" }, { "start_pos": "759", "end_pos": "759" }, { "start_pos": "96", "end_pos": "100" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "723", "end_pos": "723" }, { "start_pos": "768", "end_pos": "768" }, { "start_pos": "774", "end_pos": "774" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "95", "end_pos": "95" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q16666-1.96.100", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16666-1.99.99", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16666-1.106.106", "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": "P06213-1.1003.1003", "start_pos": 1003, "end_pos": 1003, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Development of in vitro model of insulin receptor cleavage induced by high glucose in HepG2 cells.", "journal": "Biochemical and biophysical research communications", "date": "2014", "authors": "Yuasa T, Amo K, Ishikura S, Nagaya H, Uchiyama K, Hashida S, Ebina Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "24508798", "url": "https://glygen.org/publication/PubMed/24508798" } ] }, { "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": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "24508798", "url": "https://glygen.org/publication/PubMed/24508798", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QPDGPLGPLYASSNPEYLSA", "down_seq": "DVFPCSVYVPDEWEVSREKI", "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": "Ser1003", "evidence": [ { "id": "24508798", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24508798" }, { "id": "P06213", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7126589", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1003", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1011.1011", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": "P06213-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1967781164", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1967781164", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1967781164", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1967781164#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TDYLLLFRVYGLESLKDLFP", "down_seq": "LTVIRGSRLFFNYALVIFEM", "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": "DLFPNLTVIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "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": "Asn105", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1967781164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1967781164" }, { "id": "rs1967781164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1967781164#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "19", "chr_pos": "7267683", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N105", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.119.119", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "How insulin engages its primary binding site on the insulin receptor.", "journal": "Nature", "date": "2013", "authors": "Menting JG, Whittaker J, Margetts MB, Whittaker LJ, Kong GK, Smith BJ, Watson CJ, Zakova L, Kletvikova E, Jiracek J, Chan SJ, Steiner DF, Dodson GG, Brzozowski AM, Weiss MA, Ward CW, Lawrence MC", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] }, { "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": "2HR7", "url": "https://www.rcsb.org/structure/2HR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HR7|B|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "2HR7|A|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W11", "url": "https://www.rcsb.org/structure/3W11", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W12", "url": "https://www.rcsb.org/structure/3W12", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W13", "url": "https://www.rcsb.org/structure/3W13", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OGA", "url": "https://www.rcsb.org/structure/4OGA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEQ", "url": "https://www.rcsb.org/structure/6VEQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W11|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W12|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W13|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4OGA|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|K|111", "url": "", "database": "", "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "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": "4XSS", "url": "https://www.rcsb.org/structure/4XSS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XST", "url": "https://www.rcsb.org/structure/4XST", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN4", "url": "https://www.rcsb.org/structure/6HN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEP", "url": "https://www.rcsb.org/structure/6VEP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KD6", "url": "https://www.rcsb.org/structure/7KD6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XSS|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4XST|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN4|F|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|Q|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|W|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|K|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|Q|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|W|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|K|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|111", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|111", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YALVIFEMVHLKELGLYNLM", "down_seq": "ITRGSVRIEKNNELCYLATI", "glycosylation": [ { "glytoucan_ac": "G11101UV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELGLYNLMnITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELGLYNLMnITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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": "G56014GC", "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=2HR7&bu=0&command=select+.B:111;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "2HR7", "database": "PDB", "url": "https://www.rcsb.org/structure/2HR7" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELGLYNLMnITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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": "G72951AH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELGLYNLMnITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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": "ELGLYNLMnITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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": "G81315DD", "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=3W11&bu=0&command=select+.E:111;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "3W11", "database": "PDB", "url": "https://www.rcsb.org/structure/3W11" }, { "id": "3W12", "database": "PDB", "url": "https://www.rcsb.org/structure/3W12" }, { "id": "3W13", "database": "PDB", "url": "https://www.rcsb.org/structure/3W13" }, { "id": "4OGA", "database": "PDB", "url": "https://www.rcsb.org/structure/4OGA" }, { "id": "6VEQ", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEQ" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ELGLYNLMNITR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4XSS&bu=0&command=select+.E:111;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "23302862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23302862" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "4XSS", "database": "PDB", "url": "https://www.rcsb.org/structure/4XSS" }, { "id": "4XST", "database": "PDB", "url": "https://www.rcsb.org/structure/4XST" }, { "id": "6HN4", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN4" }, { "id": "6VEP", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEP" }, { "id": "7KD6", "database": "PDB", "url": "https://www.rcsb.org/structure/7KD6" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.141.141", "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": 9 }, { "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": 8 }, { "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": 8 } ], "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": 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": 8 }, { "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": 8 } ], "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "How insulin engages its primary binding site on the insulin receptor.", "journal": "Nature", "date": "2013", "authors": "Menting JG, Whittaker J, Margetts MB, Whittaker LJ, Kong GK, Smith BJ, Watson CJ, Zakova L, Kletvikova E, Jiracek J, Chan SJ, Steiner DF, Dodson GG, Brzozowski AM, Weiss MA, Ward CW, Lawrence MC", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] }, { "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": "2HR7", "url": "https://www.rcsb.org/structure/2HR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HR7|B|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "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": "3W11", "url": "https://www.rcsb.org/structure/3W11", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W12", "url": "https://www.rcsb.org/structure/3W12", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W13", "url": "https://www.rcsb.org/structure/3W13", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OGA", "url": "https://www.rcsb.org/structure/4OGA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XSS", "url": "https://www.rcsb.org/structure/4XSS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XST", "url": "https://www.rcsb.org/structure/4XST", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZXB", "url": "https://www.rcsb.org/structure/4ZXB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5J3H", "url": "https://www.rcsb.org/structure/5J3H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN4", "url": "https://www.rcsb.org/structure/6HN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEP", "url": "https://www.rcsb.org/structure/6VEP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEQ", "url": "https://www.rcsb.org/structure/6VEQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KD6", "url": "https://www.rcsb.org/structure/7KD6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQO", "url": "https://www.rcsb.org/structure/7MQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9NCN", "url": "https://www.rcsb.org/structure/9NCN", "database": "PDB", "categories": [ "Other" ] }, { "id": "3W11|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W12|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W13|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4OGA|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4XSS|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4XST|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4ZXB|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "5J3H|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN4|F|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN5|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|Q|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|K|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|K|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|Q|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|W|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|K|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|F|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "9NCN|F|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "9NCN|E|215", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs1160441788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160441788", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1160441788", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160441788", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1459277936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459277936", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1459277936", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459277936", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ICKSHGCTAEGLCCHSECLG", "down_seq": "CSQPDDPTKCVACRNFYLDG", "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "G05049YU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "G55220VL", "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=2HR7&bu=0&command=select+.B:215;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "2HR7", "database": "PDB", "url": "https://www.rcsb.org/structure/2HR7" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "SHGCTAEGLCCHSECLGnCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": "G92406TI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHGCTAEGLCCHSECLGNCSQPDDPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=3W11&bu=0&command=select+.E:215;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "23302862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23302862" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "3W11", "database": "PDB", "url": "https://www.rcsb.org/structure/3W11" }, { "id": "3W12", "database": "PDB", "url": "https://www.rcsb.org/structure/3W12" }, { "id": "3W13", "database": "PDB", "url": "https://www.rcsb.org/structure/3W13" }, { "id": "4OGA", "database": "PDB", "url": "https://www.rcsb.org/structure/4OGA" }, { "id": "4XSS", "database": "PDB", "url": "https://www.rcsb.org/structure/4XSS" }, { "id": "4XST", "database": "PDB", "url": "https://www.rcsb.org/structure/4XST" }, { "id": "4ZXB", "database": "PDB", "url": "https://www.rcsb.org/structure/4ZXB" }, { "id": "5J3H", "database": "PDB", "url": "https://www.rcsb.org/structure/5J3H" }, { "id": "6HN4", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN4" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "6VEP", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEP" }, { "id": "6VEQ", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEQ" }, { "id": "7KD6", "database": "PDB", "url": "https://www.rcsb.org/structure/7KD6" }, { "id": "7MQO", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQO" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "9NCN", "database": "PDB", "url": "https://www.rcsb.org/structure/9NCN" } ] } ], "snv": [ { "evidence": [ { "id": "rs1160441788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160441788" }, { "id": "rs1160441788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160441788" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->HCS).", "chr_id": "19", "chr_pos": "7184566", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1459277936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459277936" }, { "id": "rs1459277936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459277936" } ], "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": "19", "chr_pos": "7184565", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N242", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.247.247", "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", "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": 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", "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": 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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.282.282", "start_pos": 282, "end_pos": 282, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "How insulin engages its primary binding site on the insulin receptor.", "journal": "Nature", "date": "2013", "authors": "Menting JG, Whittaker J, Margetts MB, Whittaker LJ, Kong GK, Smith BJ, Watson CJ, Zakova L, Kletvikova E, Jiracek J, Chan SJ, Steiner DF, Dodson GG, Brzozowski AM, Weiss MA, Ward CW, Lawrence MC", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] }, { "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": "6VEP", "url": "https://www.rcsb.org/structure/6VEP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEP|K|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "5J3H", "url": "https://www.rcsb.org/structure/5J3H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5J3H|E|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|W|255", "url": "", "database": "", "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "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": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQO", "url": "https://www.rcsb.org/structure/7MQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6E", "url": "https://www.rcsb.org/structure/7U6E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5|E|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|E|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|F|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7U6E|E|255", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs1291755894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291755894", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1291755894", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291755894#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1291755894", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291755894", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GRCVETCPPPYYHFQDWRCV", "down_seq": "FSFCQDLHHKCKNSRRQGCH", "glycosylation": [ { "glytoucan_ac": "G00395TQ", "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=6VEP&bu=0&command=select+.K:255;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "6VEP", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEP" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "G07246CJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "G07483YN", "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=5J3H&bu=0&command=select+.E:255;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "5J3H", "database": "PDB", "url": "https://www.rcsb.org/structure/5J3H" } ] }, { "glytoucan_ac": "G08918WF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "G42466VF", "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=6VEP&bu=0&command=select+.W:255;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "6VEP", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEP" } ] }, { "glytoucan_ac": "G45395BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVNFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "G83646BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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": "CVnFSFCQDLHHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "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=6HN5&bu=0&command=select+.E:255;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "23302862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23302862" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "7MQO", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQO" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7U6E", "database": "PDB", "url": "https://www.rcsb.org/structure/7U6E" } ] } ], "snv": [ { "evidence": [ { "id": "rs1291755894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291755894" }, { "id": "rs1291755894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291755894#frequency_tab" }, { "id": "rs1291755894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291755894" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFS->DFS).", "chr_id": "19", "chr_pos": "7184446", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N282", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P06213-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.294.294", "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": 20 }, { "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": 19 }, { "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": 19 } ], "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": 19 }, { "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": 19 }, { "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": 19 } ], "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "4XSS", "url": "https://www.rcsb.org/structure/4XSS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XSS|E|295", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs1431218772", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431218772", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1431218772", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431218772", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HQYVIHNNKCIPECPSGYTM", "down_seq": "SSNLLCTPCLGPCPKVCHLL", "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=4XSS&bu=0&command=select+.E:295;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn322", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "4XSS", "database": "PDB", "url": "https://www.rcsb.org/structure/4XSS" } ] } ], "snv": [ { "evidence": [ { "id": "rs1431218772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431218772" }, { "id": "rs1431218772", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431218772" } ], "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": "19", "chr_pos": "7184325", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N322", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P06213-1.324.324", "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": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.364.364", "start_pos": 364, "end_pos": 364, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] } ], "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "database": "PubMed", "categories": [ "Other" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S0Q", "url": "https://www.rcsb.org/structure/7S0Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6E", "url": "https://www.rcsb.org/structure/7U6E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5|F|337", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|337", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|337", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S0Q|B|337", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7U6E|F|337", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs1426569722", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426569722", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1426569722", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426569722", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GEKTIDSVTSAQELRGCTVI", "down_seq": "GSLIINIRGGNNLAAELEAN", "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GCTVINGSLIINIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn364", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=6HN5&bu=0&command=select+.F:337;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn364", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7S0Q", "database": "PDB", "url": "https://www.rcsb.org/structure/7S0Q" }, { "id": "7U6E", "database": "PDB", "url": "https://www.rcsb.org/structure/7U6E" } ] } ], "snv": [ { "evidence": [ { "id": "rs1426569722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426569722" }, { "id": "rs1426569722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426569722" } ], "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": "19", "chr_pos": "7174615", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N364", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P06213-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.366.366", "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", "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": 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", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "P06213-1.424.424", "start_pos": 424, "end_pos": 424, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] }, { "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": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "id": "4ZXB", "url": "https://www.rcsb.org/structure/4ZXB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZXB|E|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "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": "2HR7", "url": "https://www.rcsb.org/structure/2HR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQO", "url": "https://www.rcsb.org/structure/7MQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S0Q", "url": "https://www.rcsb.org/structure/7S0Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6E", "url": "https://www.rcsb.org/structure/7U6E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9NCN", "url": "https://www.rcsb.org/structure/9NCN", "database": "PDB", "categories": [ "Other" ] }, { "id": "2HR7|B|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "2HR7|A|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN5|E|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN5|F|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|E|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|F|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S0Q|B|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7U6E|F|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "9NCN|F|397", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "9NCN|E|397", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VSLSFFRKLRLIRGETLEIG", "down_seq": "YSFYALDNQNLRQLWDWSKH", "glycosylation": [ { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G05962QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G12341GU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G20312EM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G39203UC", "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=4ZXB&bu=0&command=select+.E:397;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "4ZXB", "database": "PDB", "url": "https://www.rcsb.org/structure/4ZXB" } ] }, { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G60834IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G77582RK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G80075MS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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": "G83646BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GETLEIGnYSFYALDNQNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "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=2HR7&bu=0&command=select+.B:397;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "2HR7", "database": "PDB", "url": "https://www.rcsb.org/structure/2HR7" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "7MQO", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQO" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7S0Q", "database": "PDB", "url": "https://www.rcsb.org/structure/7S0Q" }, { "id": "7U6E", "database": "PDB", "url": "https://www.rcsb.org/structure/7U6E" }, { "id": "9NCN", "database": "PDB", "url": "https://www.rcsb.org/structure/9NCN" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.407.407", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.440.440", "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": 16 }, { "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": 15 }, { "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": 15 } ], "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": 15 }, { "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": 15 }, { "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": 15 } ], "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes.", "journal": "Nature", "date": "1985", "authors": "Ullrich A, Bell JR, Chen EY, Herrera R, Petruzzelli LM, Dull TJ, Gray A, Coussens L, Liao YC, Tsubokawa M, et al.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "2983222", "url": "https://glygen.org/publication/PubMed/2983222" } ] }, { "title": "How insulin engages its primary binding site on the insulin receptor.", "journal": "Nature", "date": "2013", "authors": "Menting JG, Whittaker J, Margetts MB, Whittaker LJ, Kong GK, Smith BJ, Watson CJ, Zakova L, Kletvikova E, Jiracek J, Chan SJ, Steiner DF, Dodson GG, Brzozowski AM, Weiss MA, Ward CW, Lawrence MC", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "2983222", "url": "https://glygen.org/publication/PubMed/2983222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "database": "PubMed", "categories": [ "Other" ] }, { "id": "2HR7", "url": "https://www.rcsb.org/structure/2HR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W11", "url": "https://www.rcsb.org/structure/3W11", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OGA", "url": "https://www.rcsb.org/structure/4OGA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XSS", "url": "https://www.rcsb.org/structure/4XSS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZXB", "url": "https://www.rcsb.org/structure/4ZXB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5J3H", "url": "https://www.rcsb.org/structure/5J3H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CE9", "url": "https://www.rcsb.org/structure/6CE9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CEB", "url": "https://www.rcsb.org/structure/6CEB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN4", "url": "https://www.rcsb.org/structure/6HN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEP", "url": "https://www.rcsb.org/structure/6VEP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEQ", "url": "https://www.rcsb.org/structure/6VEQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KD6", "url": "https://www.rcsb.org/structure/7KD6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MD5", "url": "https://www.rcsb.org/structure/7MD5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQO", "url": "https://www.rcsb.org/structure/7MQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S8V", "url": "https://www.rcsb.org/structure/7S8V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HR7|A|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W11|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4OGA|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4XSS|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4ZXB|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "5J3H|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6CE9|B|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6CE9|A|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6CEB|B|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6CEB|A|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN4|F|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN5|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEP|Q|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|K|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|Q|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|W|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MD5|A|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MD5|B|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|F|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S8V|B|16", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs144718517", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144718517", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs144718517", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144718517", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs144718517", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144718517#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs144718517", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144718517", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGAAGHLYPGEVCPGMDIRN", "down_seq": "LTRLHELENCSVIEGHLQIL", "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=2HR7&bu=0&command=select+.A:16;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn43", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "2983222", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2983222" }, { "id": "23302862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23302862" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "2HR7", "database": "PDB", "url": "https://www.rcsb.org/structure/2HR7" }, { "id": "3W11", "database": "PDB", "url": "https://www.rcsb.org/structure/3W11" }, { "id": "4OGA", "database": "PDB", "url": "https://www.rcsb.org/structure/4OGA" }, { "id": "4XSS", "database": "PDB", "url": "https://www.rcsb.org/structure/4XSS" }, { "id": "4ZXB", "database": "PDB", "url": "https://www.rcsb.org/structure/4ZXB" }, { "id": "5J3H", "database": "PDB", "url": "https://www.rcsb.org/structure/5J3H" }, { "id": "6CE9", "database": "PDB", "url": "https://www.rcsb.org/structure/6CE9" }, { "id": "6CEB", "database": "PDB", "url": "https://www.rcsb.org/structure/6CEB" }, { "id": "6HN4", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN4" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "6VEP", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEP" }, { "id": "6VEQ", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEQ" }, { "id": "7KD6", "database": "PDB", "url": "https://www.rcsb.org/structure/7KD6" }, { "id": "7MD5", "database": "PDB", "url": "https://www.rcsb.org/structure/7MD5" }, { "id": "7MQO", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQO" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7S8V", "database": "PDB", "url": "https://www.rcsb.org/structure/7S8V" } ] } ], "snv": [ { "evidence": [ { "id": "rs144718517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144718517" }, { "id": "rs144718517", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144718517" }, { "id": "rs144718517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144718517#frequency_tab" }, { "id": "rs144718517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144718517" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "19", "chr_pos": "7267869", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N43", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "P06213-1.52.52", "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", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.445.445", "start_pos": 445, "end_pos": 445, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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": "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "crossref": [ { "id": "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": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "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": "23090970", "url": "https://glygen.org/publication/PubMed/23090970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQO", "url": "https://www.rcsb.org/structure/7MQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6E", "url": "https://www.rcsb.org/structure/7U6E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5|E|418", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|E|418", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|F|418", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|418", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|418", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7U6E|E|418", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YSFYALDNQNLRQLWDWSKH", "down_seq": "LTITQGKLFFHYNPKLCLSE", "glycosylation": [ { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G05962QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G07246CJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G08918WF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G10819WX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G13131HA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G16125XL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G20312EM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G20706XG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G39471UU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G49755GI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G49906RN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G55132BD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G58087IP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G60834IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G68490OW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G70441OD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HNLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G81263BG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G83646BJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G85282JO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G86880BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G87123QX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G93718GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnLTITQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "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": "G96577RX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "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=6HN5&bu=0&command=select+.E:418;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "7MQO", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQO" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7U6E", "database": "PDB", "url": "https://www.rcsb.org/structure/7U6E" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P06213-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.440.440", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.462.462", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 45 }, { "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": 44 }, { "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": 44 } ], "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": 44 }, { "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": 44 }, { "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": 44 } ], "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "How insulin engages its primary binding site on the insulin receptor.", "journal": "Nature", "date": "2013", "authors": "Menting JG, Whittaker J, Margetts MB, Whittaker LJ, Kong GK, Smith BJ, Watson CJ, Zakova L, Kletvikova E, Jiracek J, Chan SJ, Steiner DF, Dodson GG, Brzozowski AM, Weiss MA, Ward CW, Lawrence MC", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862" } ] }, { "title": "The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Lou M, Garrett TP, McKern NM, Hoyne PA, Epa VC, Bentley JD, Lovrecz GO, Cosgrove LJ, Frenkel MJ, Ward CW", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23302862", "url": "https://glygen.org/publication/PubMed/23302862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16894147", "url": "https://glygen.org/publication/PubMed/16894147", "database": "PubMed", "categories": [ "Other" ] }, { "id": "2HR7", "url": "https://www.rcsb.org/structure/2HR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W11", "url": "https://www.rcsb.org/structure/3W11", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W12", "url": "https://www.rcsb.org/structure/3W12", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W13", "url": "https://www.rcsb.org/structure/3W13", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4OGA", "url": "https://www.rcsb.org/structure/4OGA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XST", "url": "https://www.rcsb.org/structure/4XST", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN4", "url": "https://www.rcsb.org/structure/6HN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VEQ", "url": "https://www.rcsb.org/structure/6VEQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KD6", "url": "https://www.rcsb.org/structure/7KD6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQO", "url": "https://www.rcsb.org/structure/7MQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S8V", "url": "https://www.rcsb.org/structure/7S8V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6E", "url": "https://www.rcsb.org/structure/7U6E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "9NCN", "url": "https://www.rcsb.org/structure/9NCN", "database": "PDB", "categories": [ "Other" ] }, { "id": "2HR7|B|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W11|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W12|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "3W13|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4OGA|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4XST|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN4|F|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN5|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6VEQ|K|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7KD6|K|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQO|F|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S8V|B|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7U6E|E|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "9NCN|F|25", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "9NCN|E|25", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GEVCPGMDIRNNLTRLHELE", "down_seq": "CSVIEGHLQILLMFKTRPED", "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=2HR7&bu=0&command=select+.B:25;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "23302862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23302862" }, { "id": "16894147", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16894147" }, { "id": "2HR7", "database": "PDB", "url": "https://www.rcsb.org/structure/2HR7" }, { "id": "3W11", "database": "PDB", "url": "https://www.rcsb.org/structure/3W11" }, { "id": "3W12", "database": "PDB", "url": "https://www.rcsb.org/structure/3W12" }, { "id": "3W13", "database": "PDB", "url": "https://www.rcsb.org/structure/3W13" }, { "id": "4OGA", "database": "PDB", "url": "https://www.rcsb.org/structure/4OGA" }, { "id": "4XST", "database": "PDB", "url": "https://www.rcsb.org/structure/4XST" }, { "id": "6HN4", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN4" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "6VEQ", "database": "PDB", "url": "https://www.rcsb.org/structure/6VEQ" }, { "id": "7KD6", "database": "PDB", "url": "https://www.rcsb.org/structure/7KD6" }, { "id": "7MQO", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQO" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7S8V", "database": "PDB", "url": "https://www.rcsb.org/structure/7S8V" }, { "id": "7U6E", "database": "PDB", "url": "https://www.rcsb.org/structure/7U6E" }, { "id": "9NCN", "database": "PDB", "url": "https://www.rcsb.org/structure/9NCN" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P06213-1.43.43", "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", "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": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 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": "P06213-1.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Identification of a disulfide bridge connecting the alpha-subunits of the extracellular domain of the insulin receptor.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Schaffer L, Ljungqvist L", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "1472036", "url": "https://glygen.org/publication/PubMed/1472036" } ] } ], "crossref": [ { "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1472036", "url": "https://glygen.org/publication/PubMed/1472036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "4ZXB", "url": "https://www.rcsb.org/structure/4ZXB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN5", "url": "https://www.rcsb.org/structure/6HN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S0Q", "url": "https://www.rcsb.org/structure/7S0Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6E", "url": "https://www.rcsb.org/structure/7U6E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZXB|E|514", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "6HN5|F|514", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S0Q|B|514", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7U6E|F|514", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PPDFRDLLGFMLFYKEAPYQ", "down_seq": "VTEFDGQDACGSNSWTVVDI", "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EAPYQNVTEFDGQDACGSNSWTVVDIDPPLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4ZXB&bu=0&command=select+.E:514;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "1472036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1472036" }, { "id": "4ZXB", "database": "PDB", "url": "https://www.rcsb.org/structure/4ZXB" }, { "id": "6HN5", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN5" }, { "id": "7S0Q", "database": "PDB", "url": "https://www.rcsb.org/structure/7S0Q" }, { "id": "7U6E", "database": "PDB", "url": "https://www.rcsb.org/structure/7U6E" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P06213-1.543.543", "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": 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": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "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": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.633.633", "start_pos": 633, "end_pos": 633, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] } ], "crossref": [ { "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "6HN4", "url": "https://www.rcsb.org/structure/6HN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S8V", "url": "https://www.rcsb.org/structure/7S8V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HN4|F|606", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|E|606", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|606", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S8V|B|606", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1283232736", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283232736", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1283232736", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283232736", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IYVQTDATNPSVPLDPISVS", "down_seq": "SSSQIILKWKPPSDPNGNIT", "glycosylation": [ { "glytoucan_ac": "G96577RX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn633", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "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=6HN4&bu=0&command=select+.F:606;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn633", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "6HN4", "database": "PDB", "url": "https://www.rcsb.org/structure/6HN4" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7S8V", "database": "PDB", "url": "https://www.rcsb.org/structure/7S8V" } ] } ], "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs1283232736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283232736" }, { "id": "rs1283232736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283232736" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "19", "chr_pos": "7163164", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N633", "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": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "19", "chr_pos": "7163163", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N633", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.618.618", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.651.651", "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": 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", "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": 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", "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": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "P06213-1.651.651", "start_pos": 651, "end_pos": 651, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "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": "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "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": "7MQR", "url": "https://www.rcsb.org/structure/7MQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S8V", "url": "https://www.rcsb.org/structure/7S8V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQR|E|624", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7MQR|F|624", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7S8V|B|624", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VSNSSSQIILKWKPPSDPNG", "down_seq": "ITHYLVFWERQAEDSELFEL", "glycosylation": [ { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G07246CJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G16125XL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGNITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G20706XG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G49906RN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G85282JO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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": "G87123QX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "WKPPSDPNGnITHYLVFWER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "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=7MQR&bu=0&command=select+.E:624;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#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" }, { "id": "7MQR", "database": "PDB", "url": "https://www.rcsb.org/structure/7MQR" }, { "id": "7S8V", "database": "PDB", "url": "https://www.rcsb.org/structure/7S8V" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P06213-1.633.633", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P06213-1.635.635", "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": 17 }, { "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": 16 }, { "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": 16 } ], "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": 16 }, { "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": 16 }, { "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": 16 } ], "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.698.698", "start_pos": 698, "end_pos": 698, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "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": "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "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": "rs1973410208", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1973410208", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1973410208", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1973410208", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LKLPSRTWSPPFESEDSQKH", "down_seq": "QSEYEDSAGECCSCPKTDSQ", "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnQSEYEDSAGECCSCPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn698", "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": "HnQSEYEDSAGECCSCPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn698", "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": "G54010QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnQSEYEDSAGECCSCPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn698", "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": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HnQSEYEDSAGECCSCPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn698", "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": "HnQSEYEDSAGECCSCPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn698", "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": "G93718GY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HNQSEYEDSAGECCSCPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn698", "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": "Asn698", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#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": "rs1973410208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1973410208" }, { "id": "rs1973410208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1973410208" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->IQS).", "chr_id": "19", "chr_pos": "7152864", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N698", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P06213-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.700.700", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.708.708", "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": 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": 6 }, { "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": 6 } ], "sort_fields": [ "glytoucan_ac", "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": 6 }, { "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": 6 }, { "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": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.758.758", "start_pos": 758, "end_pos": 758, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The location and characterisation of the O-linked glycans of the human insulin receptor.", "journal": "Proteins", "date": "2007-02-01", "authors": "Sparrow Lindsay G, Gorman Jeffrey J, Strike Phillip M, Robinson Christine P, McKern Neil M, Epa V Chandana, Ward Colin W", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "17078079", "url": "https://glygen.org/publication/PubMed/17078079" } ] } ], "crossref": [ { "id": "17078079", "url": "https://glygen.org/publication/PubMed/17078079", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NVVFVPRKTSSGTGAEDPRP", "down_seq": "RKRRSLGDVGNVTVAVPTVA", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser758", "evidence": [ { "id": "17078079", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17078079" }, { "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": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "7143085", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S758", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P06213-1.746.746", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.769.769", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.771.771", "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", "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": 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", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "P06213-1.769.769", "start_pos": 769, "end_pos": 769, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes.", "journal": "Nature", "date": "1985", "authors": "Ullrich A, Bell JR, Chen EY, Herrera R, Petruzzelli LM, Dull TJ, Gray A, Coussens L, Liao YC, Tsubokawa M, et al.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "2983222", "url": "https://glygen.org/publication/PubMed/2983222" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "2983222", "url": "https://glygen.org/publication/PubMed/2983222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GTGAEDPRPSRKRRSLGDVG", "down_seq": "VTVAVPTVAAFPNTSSTSVP", "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": "Asn769", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "id": "2983222", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2983222" } ] } ], "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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 (NVT->IVT).", "chr_id": "19", "chr_pos": "7143052", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N769", "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": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "19", "chr_pos": "7143052", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N769", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.758.758", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.782.782", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.784.784", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.786.786", "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": 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": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "P06213-1.782.782", "start_pos": 782, "end_pos": 782, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs757052315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757052315", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757052315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757052315", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757052315", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757052315", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RSLGDVGNVTVAVPTVAAFP", "down_seq": "TSSTSVPTSPEEHRPFEKVV", "glycosylation": [ { "glytoucan_ac": "G50303LH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SLGDVGNVTVAVPTVAAFPNTSSTSVPTSPEEHRPFEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn782", "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": "Asn782", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs757052315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757052315" }, { "id": "rs757052315", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757052315" }, { "id": "rs757052315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757052315" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->STS).", "chr_id": "19", "chr_pos": "7143013", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N782", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.769.769", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.784.784", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.786.786", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.790.790", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.791.791", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.786.786", "start_pos": 786, "end_pos": 786, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "crossref": [ { "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DVGNVTVAVPTVAAFPNTSS", "down_seq": "SVPTSPEEHRPFEKVVNKES", "glycosylation": [ { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr786", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr786", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G58001LT", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr786", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.769.769", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P06213-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.782.782", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.784.784", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.790.790", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.791.791", "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": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_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": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.790.790", "start_pos": 790, "end_pos": 790, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "crossref": [ { "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "rs1429159172", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429159172", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1429159172", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1429159172#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1429159172", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429159172", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs369025474", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369025474", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs369025474", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369025474", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs369025474", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369025474#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs369025474", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369025474", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs369025474", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369025474", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VTVAVPTVAAFPNTSSTSVP", "down_seq": "SPEEHRPFEKVVNKESLVIS", "glycosylation": [ { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr790", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr790", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] } ], "snv": [ { "evidence": [ { "id": "rs1429159172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429159172" }, { "id": "rs1429159172", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1429159172#frequency_tab" }, { "id": "rs1429159172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429159172" } ], "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": "19", "chr_pos": "7142990", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T790", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs369025474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369025474" }, { "id": "rs369025474", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369025474" }, { "id": "rs369025474", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369025474#frequency_tab" }, { "id": "rs369025474", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369025474" }, { "id": "rs369025474", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369025474" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "7142989", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T790", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.782.782", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.784.784", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.786.786", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.791.791", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P06213-1.791.791", "start_pos": 791, "end_pos": 791, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "crossref": [ { "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "rs1599897330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599897330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599897330", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1599897330#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TVAVPTVAAFPNTSSTSVPT", "down_seq": "PEEHRPFEKVVNKESLVISG", "glycosylation": [ { "glytoucan_ac": "G29068FM", "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": "Ser791", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] } ], "snv": [ { "evidence": [ { "id": "rs1599897330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599897330" }, { "id": "rs1599897330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1599897330#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "19", "chr_pos": "7142986", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S791", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.782.782", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.784.784", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.786.786", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.790.790", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.920.920", "start_pos": 920, "end_pos": 920, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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": "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1402", "url": "https://glyconnect.expasy.org/browser/proteins/1402", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "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" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VSRKHFALERGCRLRGLSPG", "down_seq": "YSVRIRATSLAGNGSWTEPT", "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": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G07246CJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G23294PN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G23984SE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1402" } ] }, { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G28541PG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G37399XV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G70223PD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGNYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "G95865ZB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLSPGnYSVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn920", "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": "Asn920", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#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" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P06213-1.906.906", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.922.922", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.933.933", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.937.937", "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": 16 }, { "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": 15 }, { "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": 15 } ], "sort_fields": [ "glytoucan_ac", "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": 15 }, { "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": 15 }, { "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": 15 } ], "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": "P06213-1.933.933", "start_pos": 933, "end_pos": 933, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LRGLSPGNYSVRIRATSLAG", "down_seq": "GSWTEPTYFYVTDYLDVPSN", "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": "Asn933", "evidence": [ { "id": "P06213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06213#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGS->YGS).", "chr_id": "19", "chr_pos": "7132203", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N933", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.920.920", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.922.922", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.941.941", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.946.946", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.994.994", "start_pos": 994, "end_pos": 994, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Development of in vitro model of insulin receptor cleavage induced by high glucose in HepG2 cells.", "journal": "Biochemical and biophysical research communications", "date": "2014", "authors": "Yuasa T, Amo K, Ishikura S, Nagaya H, Uchiyama K, Hashida S, Ebina Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "24508798", "url": "https://glygen.org/publication/PubMed/24508798" } ] }, { "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": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "24508798", "url": "https://glygen.org/publication/PubMed/24508798", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SIYLFLRKRQPDGPLGPLYA", "down_seq": "SNPEYLSASDVFPCSVYVPD", "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": "Ser994", "evidence": [ { "id": "24508798", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24508798" }, { "id": "P06213", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "7126616", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S994", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.1011.1011", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": "P06213-1.995.995", "start_pos": 995, "end_pos": 995, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Development of in vitro model of insulin receptor cleavage induced by high glucose in HepG2 cells.", "journal": "Biochemical and biophysical research communications", "date": "2014", "authors": "Yuasa T, Amo K, Ishikura S, Nagaya H, Uchiyama K, Hashida S, Ebina Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "24508798", "url": "https://glygen.org/publication/PubMed/24508798" } ] }, { "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": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "24508798", "url": "https://glygen.org/publication/PubMed/24508798", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1972652647", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1972652647", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1972652647", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1972652647#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1972652647", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1972652647", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IYLFLRKRQPDGPLGPLYAS", "down_seq": "NPEYLSASDVFPCSVYVPDE", "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": "Ser995", "evidence": [ { "id": "24508798", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24508798" }, { "id": "P06213", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06213" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "19", "chr_pos": "7126614", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S995", "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": "rs1972652647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1972652647" }, { "id": "rs1972652647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1972652647#frequency_tab" }, { "id": "rs1972652647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1972652647" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "19", "chr_pos": "7126613", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S995", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.1011.1011", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "P06213-1.1000.1000", "start_pos": 1000, "end_pos": 1000, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RKRQPDGPLGPLYASSNPEY", "down_seq": "SASDVFPCSVYVPDEWEVSR", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Severely reduces interaction with SHC1. Has no effect on interaction with IRS1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "Severely reduces interaction with SHC1. Has no effect on interaction with IRS1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1011.1011", "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": "P06213-1.1002.1002", "start_pos": 1002, "end_pos": 1002, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RQPDGPLGPLYASSNPEYLS", "down_seq": "SDVFPCSVYVPDEWEVSREK", "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Reduces interaction with IRS1 but has no effect on interaction with SHC1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.1011.1011", "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": "P06213-1.1011.1011", "start_pos": 1011, "end_pos": 1011, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural and biochemical evidence for an autoinhibitory role for tyrosine 984 in the juxtamembrane region of the insulin receptor.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Li S, Covino ND, Stein EG, Till JH, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "12707268", "url": "https://glygen.org/publication/PubMed/12707268" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12707268", "url": "https://glygen.org/publication/PubMed/12707268", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LYASSNPEYLSASDVFPCSV", "down_seq": "VPDEWEVSREKITLLRELGQ", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Increases kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "12707268", "url": "https://glygen.org/publication/PubMed/12707268" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "site_lbl": "Tyr1011" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.1057.1057", "start_pos": 1057, "end_pos": 1057, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evidence for an interaction between the insulin receptor and Grb7. A role for two of its binding domains, PIR and SH2.", "journal": "Oncogene", "date": "2000", "authors": "Kasus-Jacobi A, Bereziat V, Perdereau D, Girard J, Burnol AF", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" } ] }, { "title": "Replacement of lysine residue 1030 in the putative ATP-binding region of the insulin receptor abolishes insulin- and antibody-stimulated glucose uptake and receptor kinase activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Ebina Y, Araki E, Taira M, Shimada F, Mori M, Craik CS, Siddle K, Pierce SB, Roth RA, Rutter WJ", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "3101064", "url": "https://glygen.org/publication/PubMed/3101064" } ] }, { "title": "Phosphotyrosine-dependent interaction of SHC and insulin receptor substrate 1 with the NPEY motif of the insulin receptor via a novel non-SH2 domain.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Gustafson TA, He W, Craparo A, Schaub CD, O'Neill TJ", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3101064", "url": "https://glygen.org/publication/PubMed/3101064", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VYEGNARDIIKGEAETRVAV", "down_seq": "TVNESASLRERIEFLNEASV", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes the kinase activity and abolishes interaction with IRS1, SHC1, GRB7 and PIK3R1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" }, { "database": "PubMed", "id": "3101064", "url": "https://glygen.org/publication/PubMed/3101064" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] }, { "sequence_org": "K", "sequence_mut": "M", "comment": "Abolishes the kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" }, { "database": "PubMed", "id": "3101064", "url": "https://glygen.org/publication/PubMed/3101064" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes the kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" }, { "database": "PubMed", "id": "3101064", "url": "https://glygen.org/publication/PubMed/3101064" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.1053.1053", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1062.1062", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1064.1064", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.1079.1079", "start_pos": 1079, "end_pos": 1079, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "MARCH1 regulates insulin sensitivity by controlling cell surface insulin receptor levels.", "journal": "Nature communications", "date": "2016", "authors": "Nagarajan A, Petersen MC, Nasiri AR, Butrico G, Fung A, Ruan HB, Kursawe R, Caprio S, Thibodeau J, Bourgeois-Daigneault MC, Sun L, Gao G, Bhanot S, Jurczak MJ, Green MR, Shulman GI, Wajapeyee N", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "27577745", "url": "https://glygen.org/publication/PubMed/27577745" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "27577745", "url": "https://glygen.org/publication/PubMed/27577745", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VNESASLRERIEFLNEASVM", "down_seq": "GFTCHHVVRLLGVVSKGQPT", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Increased cell surface stability.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "27577745", "url": "https://glygen.org/publication/PubMed/27577745" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.1062.1062", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P06213-1.1064.1064", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1083.1083", "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": "P06213-1.1083.1083", "start_pos": 1083, "end_pos": 1083, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme that selectively S-nitrosylates proteins to regulate insulin signaling.", "journal": "Cell", "date": "2023-12-21", "authors": "Zhou Hua-Lin, Grimmett Zachary W, Venetos Nicholas M, Stomberski Colin T, Qian Zhaoxia, McLaughlin Precious J, Bansal Puneet K, Zhang Rongli, Reynolds James D, Premont Richard T, Stamler Jonathan S", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "ASLRERIEFLNEASVMKGFT", "down_seq": "HHVVRLLGVVSKGQPTLVVM", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Reduced S-nitrosylation by BLVRB, leading to increased receptor tyrosine kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.1064.1064", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.1079.1079", "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": "P06213-1.1159.1159", "start_pos": 1159, "end_pos": 1159, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multiple activation loop conformations and their regulatory properties in the insulin receptor's kinase domain.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ablooglu AJ, Frankel M, Rusinova E, Ross JB, Kohanski RA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "11598120", "url": "https://glygen.org/publication/PubMed/11598120" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11598120", "url": "https://glygen.org/publication/PubMed/11598120", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAAEIADGMAYLNAKKFVHR", "down_seq": "LAARNCMVAHDFTVKIGDFG", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "11598120", "url": "https://glygen.org/publication/PubMed/11598120" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "P06213-1.1163.1163", "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": "P06213-1.1163.1163", "start_pos": 1163, "end_pos": 1163, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multiple activation loop conformations and their regulatory properties in the insulin receptor's kinase domain.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ablooglu AJ, Frankel M, Rusinova E, Ross JB, Kohanski RA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "11598120", "url": "https://glygen.org/publication/PubMed/11598120" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11598120", "url": "https://glygen.org/publication/PubMed/11598120", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IADGMAYLNAKKFVHRDLAA", "down_seq": "NCMVAHDFTVKIGDFGMTRD", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "11598120", "url": "https://glygen.org/publication/PubMed/11598120" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.1159.1159", "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": "P06213-1.1189.1189", "start_pos": 1189, "end_pos": 1189, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evidence for an interaction between the insulin receptor and Grb7. A role for two of its binding domains, PIR and SH2.", "journal": "Oncogene", "date": "2000", "authors": "Kasus-Jacobi A, Bereziat V, Perdereau D, Girard J, Burnol AF", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "A mutant insulin receptor induces formation of a Shc-growth factor receptor bound protein 2 (Grb2) complex and p21ras-GTP without detectable interaction of insulin receptor substrate 1 (IRS1) with Grb2. Evidence for IRS1-independent p21ras-GTP formation.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Ouwens DM, van der Zon GC, Pronk GJ, Bos JL, Moller W, Cheatham B, Kahn CR, Maassen JA", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540" } ] }, { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] }, { "title": "Identification of insulin receptor tyrosine residues autophosphorylated in vitro.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tornqvist HE, Pierce MW, Frackelton AR, Nemenoff RA, Avruch J", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" } ] }, { "title": "Structural basis for recruitment of the adaptor protein APS to the activated insulin receptor.", "journal": "Molecular cell", "date": "2003", "authors": "Hu J, Liu J, Ghirlando R, Saltiel AR, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593" } ] }, { "title": "The metastasis-promoting phosphatase PRL-3 shows activity toward phosphoinositides.", "journal": "Biochemistry", "date": "2011-09-06", "authors": "McParland Victoria, Varsano Giulia, Li Xun, Thornton Janet, Baby Jancy, Aravind Ajay, Meyer Christoph, Pavic Karolina, Rios Pablo, K\u00f6hn Maja", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "21806020", "url": "https://glygen.org/publication/PubMed/21806020" } ] }, { "title": "An enzyme-linked immunosorbent assay to measure insulin receptor dephosphorylation by PTP1B.", "journal": "Analytical biochemistry", "date": "2007-06-15", "authors": "Zhang Yan-Ling, Tam May, Kirincich Steve, Wan Zhao-Kui, Wilson Doug, Wu Jun Jun, Lee Jinbo, Tobin James F, Erbe David V", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567" } ] }, { "title": "Molecular basis for the dephosphorylation of the activation segment of the insulin receptor by protein tyrosine phosphatase 1B.", "journal": "Molecular cell", "date": "2000-12", "authors": "Salmeen A, Andersen J N, Myers M P, Tonks N K, Barford D", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213" } ] }, { "title": "Grb10 interacts differentially with the insulin receptor, insulin-like growth factor I receptor, and epidermal growth factor receptor via the Grb10 Src homology 2 (SH2) domain and a second novel domain located between the pleckstrin homology and SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "He W, Rose DW, Olefsky JM, Gustafson TA", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9506989", "url": "https://glygen.org/publication/PubMed/9506989" } ] }, { "title": "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase.", "journal": "The Biochemical journal", "date": "1998", "authors": "Kotani K, Wilden P, Pillay TS", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" } ] }, { "title": "Structural basis for inhibition of the insulin receptor by the adaptor protein Grb14.", "journal": "Molecular cell", "date": "2005", "authors": "Depetris RS, Hu J, Gimpelevich I, Holt LJ, Daly RJ, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733" } ] }, { "title": "Crystal structure of a complex between protein tyrosine phosphatase 1B and the insulin receptor tyrosine kinase.", "journal": "Structure (London, England : 1993)", "date": "2005", "authors": "Li S, Depetris RS, Barford D, Chernoff J, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-77387", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77387" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887" } ] }, { "title": "Structural and biochemical characterization of the KRLB region in insulin receptor substrate-2.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Wu J, Tseng YD, Xu CF, Neubert TA, White MF, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056" } ] }, { "title": "Identification of a key element for hydrogen-bonding patterns between protein kinases and their inhibitors.", "journal": "Proteins", "date": "2008", "authors": "Katayama N, Orita M, Yamaguchi T, Hisamichi H, Kuromitsu S, Kurihara H, Sakashita H, Matsumoto Y, Fujita S, Niimi T", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165" } ] }, { "title": "Studies on the autophosphorylation of the insulin receptor from human placenta. Analysis of the sites phosphorylated by two-dimensional peptide mapping.", "journal": "The Biochemical journal", "date": "1988", "authors": "Tavare JM, Denton RM", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-74752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74752" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ] }, { "title": "Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog.", "journal": "The EMBO journal", "date": "1997", "authors": "Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "21806020", "url": "https://glygen.org/publication/PubMed/21806020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9506989", "url": "https://glygen.org/publication/PubMed/9506989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "HDFTVKIGDFGMTRDIYETD", "down_seq": "YRKGGKGLLPVRWMAPESLK", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduced interaction with GRB7.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" }, { "database": "PubMed", "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" }, { "database": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593" } ], "site_lbl": "Tyr1189" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "IntAct", "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "21806020", "url": "https://glygen.org/publication/PubMed/21806020" }, { "database": "PubMed", "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567" }, { "database": "PubMed", "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213" }, { "database": "PubMed", "id": "9506989", "url": "https://glygen.org/publication/PubMed/9506989" }, { "database": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" }, { "database": "PubMed", "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733" }, { "database": "PubMed", "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887" }, { "database": "PubMed", "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056" }, { "database": "PubMed", "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165" }, { "database": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" }, { "database": "PubMed", "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016" } ], "site_lbl": "Tyr1189" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.1185.1185", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.1187.1187", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1190.1190", "categories": [ "mutagenesis_flag", "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": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.1190.1190", "start_pos": 1190, "end_pos": 1190, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evidence for an interaction between the insulin receptor and Grb7. A role for two of its binding domains, PIR and SH2.", "journal": "Oncogene", "date": "2000", "authors": "Kasus-Jacobi A, Bereziat V, Perdereau D, Girard J, Burnol AF", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "A mutant insulin receptor induces formation of a Shc-growth factor receptor bound protein 2 (Grb2) complex and p21ras-GTP without detectable interaction of insulin receptor substrate 1 (IRS1) with Grb2. Evidence for IRS1-independent p21ras-GTP formation.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Ouwens DM, van der Zon GC, Pronk GJ, Bos JL, Moller W, Cheatham B, Kahn CR, Maassen JA", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540" } ] }, { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] }, { "title": "Identification of insulin receptor tyrosine residues autophosphorylated in vitro.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tornqvist HE, Pierce MW, Frackelton AR, Nemenoff RA, Avruch J", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" } ] }, { "title": "Structural basis for recruitment of the adaptor protein APS to the activated insulin receptor.", "journal": "Molecular cell", "date": "2003", "authors": "Hu J, Liu J, Ghirlando R, Saltiel AR, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593" } ] }, { "title": "The metastasis-promoting phosphatase PRL-3 shows activity toward phosphoinositides.", "journal": "Biochemistry", "date": "2011-09-06", "authors": "McParland Victoria, Varsano Giulia, Li Xun, Thornton Janet, Baby Jancy, Aravind Ajay, Meyer Christoph, Pavic Karolina, Rios Pablo, K\u00f6hn Maja", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "21806020", "url": "https://glygen.org/publication/PubMed/21806020" } ] }, { "title": "An enzyme-linked immunosorbent assay to measure insulin receptor dephosphorylation by PTP1B.", "journal": "Analytical biochemistry", "date": "2007-06-15", "authors": "Zhang Yan-Ling, Tam May, Kirincich Steve, Wan Zhao-Kui, Wilson Doug, Wu Jun Jun, Lee Jinbo, Tobin James F, Erbe David V", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567" } ] }, { "title": "Applying the SPOT peptide synthesis procedure to the study of protein tyrosine phosphatase substrate specificity: probing for the heavenly match in vitro.", "journal": "Methods (San Diego, Calif.)", "date": "2005-01", "authors": "Espanel Xavier, Hooft van Huijsduijnen Rob", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "15588987", "url": "https://glygen.org/publication/PubMed/15588987" } ] }, { "title": "Molecular basis for the dephosphorylation of the activation segment of the insulin receptor by protein tyrosine phosphatase 1B.", "journal": "Molecular cell", "date": "2000-12", "authors": "Salmeen A, Andersen J N, Myers M P, Tonks N K, Barford D", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213" } ] }, { "title": "The SPOT technique as a tool for studying protein tyrosine phosphatase substrate specificities.", "journal": "Protein science : a publication of the Protein Society", "date": "2002-10", "authors": "Espanel Xavier, Huguenin-Reggiani Martine, Hooft van Huijsduijnen Rob", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "12237455", "url": "https://glygen.org/publication/PubMed/12237455" } ] }, { "title": "Grb10 interacts differentially with the insulin receptor, insulin-like growth factor I receptor, and epidermal growth factor receptor via the Grb10 Src homology 2 (SH2) domain and a second novel domain located between the pleckstrin homology and SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "He W, Rose DW, Olefsky JM, Gustafson TA", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9506989", "url": "https://glygen.org/publication/PubMed/9506989" } ] }, { "title": "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase.", "journal": "The Biochemical journal", "date": "1998", "authors": "Kotani K, Wilden P, Pillay TS", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" } ] }, { "title": "Structural basis for inhibition of the insulin receptor by the adaptor protein Grb14.", "journal": "Molecular cell", "date": "2005", "authors": "Depetris RS, Hu J, Gimpelevich I, Holt LJ, Daly RJ, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733" } ] }, { "title": "Crystal structure of a complex between protein tyrosine phosphatase 1B and the insulin receptor tyrosine kinase.", "journal": "Structure (London, England : 1993)", "date": "2005", "authors": "Li S, Depetris RS, Barford D, Chernoff J, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-77387", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77387" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887" } ] }, { "title": "Structural and biochemical characterization of the KRLB region in insulin receptor substrate-2.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Wu J, Tseng YD, Xu CF, Neubert TA, White MF, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056" } ] }, { "title": "Identification of a key element for hydrogen-bonding patterns between protein kinases and their inhibitors.", "journal": "Proteins", "date": "2008", "authors": "Katayama N, Orita M, Yamaguchi T, Hisamichi H, Kuromitsu S, Kurihara H, Sakashita H, Matsumoto Y, Fujita S, Niimi T", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165" } ] }, { "title": "Studies on the autophosphorylation of the insulin receptor from human placenta. Analysis of the sites phosphorylated by two-dimensional peptide mapping.", "journal": "The Biochemical journal", "date": "1988", "authors": "Tavare JM, Denton RM", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-74752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74752" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ] }, { "title": "Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog.", "journal": "The EMBO journal", "date": "1997", "authors": "Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "21806020", "url": "https://glygen.org/publication/PubMed/21806020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15588987", "url": "https://glygen.org/publication/PubMed/15588987", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12237455", "url": "https://glygen.org/publication/PubMed/12237455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9506989", "url": "https://glygen.org/publication/PubMed/9506989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DFTVKIGDFGMTRDIYETDY", "down_seq": "RKGGKGLLPVRWMAPESLKD", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced interaction with GRB7.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "10803466", "url": "https://glygen.org/publication/PubMed/10803466" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" }, { "database": "PubMed", "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" }, { "database": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593" } ], "site_lbl": "Tyr1190" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "IntAct", "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "21806020", "url": "https://glygen.org/publication/PubMed/21806020" }, { "database": "PubMed", "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567" }, { "database": "PubMed", "id": "15588987", "url": "https://glygen.org/publication/PubMed/15588987" }, { "database": "PubMed", "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213" }, { "database": "PubMed", "id": "12237455", "url": "https://glygen.org/publication/PubMed/12237455" }, { "database": "PubMed", "id": "9506989", "url": "https://glygen.org/publication/PubMed/9506989" }, { "database": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" }, { "database": "PubMed", "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733" }, { "database": "PubMed", "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887" }, { "database": "PubMed", "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056" }, { "database": "PubMed", "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165" }, { "database": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" }, { "database": "PubMed", "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016" } ], "site_lbl": "Tyr1190" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P06213-1.1185.1185", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.1187.1187", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1189.1189", "categories": [ "mutagenesis_flag", "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": 20 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.462.462", "start_pos": 462, "end_pos": 462, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme that selectively S-nitrosylates proteins to regulate insulin signaling.", "journal": "Cell", "date": "2023-12-21", "authors": "Zhou Hua-Lin, Grimmett Zachary W, Venetos Nicholas M, Stomberski Colin T, Qian Zhaoxia, McLaughlin Precious J, Bansal Puneet K, Zhang Rongli, Reynolds James D, Premont Richard T, Stamler Jonathan S", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "SKHNLTITQGKLFFHYNPKL", "down_seq": "LSEIHKMEEVSGTKGRQERN", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.445.445", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P06213-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.473.473", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.478.478", "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": "P06213-1.825.825", "start_pos": 825, "end_pos": 825, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme that selectively S-nitrosylates proteins to regulate insulin signaling.", "journal": "Cell", "date": "2023-12-21", "authors": "Zhou Hua-Lin, Grimmett Zachary W, Venetos Nicholas M, Stomberski Colin T, Qian Zhaoxia, McLaughlin Precious J, Bansal Puneet K, Zhang Rongli, Reynolds James D, Premont Richard T, Stamler Jonathan S", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "ESLVISGLRHFTGYRIELQA", "down_seq": "NQDTPEERCSVAAYVSARTM", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "P06213-1.834.834", "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": "P06213-1.834.834", "start_pos": 834, "end_pos": 834, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme that selectively S-nitrosylates proteins to regulate insulin signaling.", "journal": "Cell", "date": "2023-12-21", "authors": "Zhou Hua-Lin, Grimmett Zachary W, Venetos Nicholas M, Stomberski Colin T, Qian Zhaoxia, McLaughlin Precious J, Bansal Puneet K, Zhang Rongli, Reynolds James D, Premont Richard T, Stamler Jonathan S", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "HFTGYRIELQACNQDTPEER", "down_seq": "SVAAYVSARTMPEAKADDIV", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "38056462", "url": "https://glygen.org/publication/PubMed/38056462" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P06213-1.825.825", "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": "P06213-1.991.991", "start_pos": 991, "end_pos": 991, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VIGSIYLFLRKRQPDGPLGP", "down_seq": "YASSNPEYLSASDVFPCSVY", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Reduces interaction with IRS1 but has no effect on interaction with SHC1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.1011.1011", "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": "P06213-1.992.992", "start_pos": 992, "end_pos": 992, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] }, { "title": "Insulin receptor autophosphorylation. II. Determination of autophosphorylation sites by chemical sequence analysis and identification of the juxtamembrane sites.", "journal": "Biochemistry", "date": "1993", "authors": "Kohanski RA", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "8504096", "url": "https://glygen.org/publication/PubMed/8504096" } ] }, { "title": "Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.", "journal": "Molecular genetics and metabolism reports", "date": "2014", "authors": "Ardon O, Procter M, Tvrdik T, Longo N, Mao R", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "27896077", "url": "https://glygen.org/publication/PubMed/27896077" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "8504096", "url": "https://glygen.org/publication/PubMed/8504096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27896077", "url": "https://glygen.org/publication/PubMed/27896077", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IGSIYLFLRKRQPDGPLGPL", "down_seq": "ASSNPEYLSASDVFPCSVYV", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduces interaction with IRS1 but has no effect on interaction with SHC1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "8504096", "url": "https://glygen.org/publication/PubMed/8504096" } ], "site_lbl": "Tyr992" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "27896077", "url": "https://glygen.org/publication/PubMed/27896077" } ], "site_lbl": "Tyr992" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.1011.1011", "categories": [ "mutagenesis_flag", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.996.996", "start_pos": 996, "end_pos": 996, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] }, { "title": "Phosphotyrosine-dependent interaction of SHC and insulin receptor substrate 1 with the NPEY motif of the insulin receptor via a novel non-SH2 domain.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Gustafson TA, He W, Craparo A, Schaub CD, O'Neill TJ", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YLFLRKRQPDGPLGPLYASS", "down_seq": "PEYLSASDVFPCSVYVPDEW", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes interaction with IRS1 and significantly reduces interaction with SHC1. Has no effect on interaction with PIK3R1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 0, "direction": "upstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.1011.1011", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.996.997", "start_pos": 996, "end_pos": 997, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "NP", "start_aa": "N", "up_seq": "YLFLRKRQPDGPLGPLYASS", "down_seq": "EYLSASDVFPCSVYVPDEWE", "mutagenesis": [ { "sequence_org": "NP", "sequence_mut": "AA", "comment": "Abolishes interaction with IRS1. Severely disrupts, but does not abolish interaction with SHC1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 0, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.1011.1011", "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": "P06213-1.997.997", "start_pos": 997, "end_pos": 997, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] }, { "title": "Phosphotyrosine-dependent interaction of SHC and insulin receptor substrate 1 with the NPEY motif of the insulin receptor via a novel non-SH2 domain.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Gustafson TA, He W, Craparo A, Schaub CD, O'Neill TJ", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LFLRKRQPDGPLGPLYASSN", "down_seq": "EYLSASDVFPCSVYVPDEWE", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes interaction with IRS1 and significantly reduces interaction with SHC1. Has no effect on interaction with PIK3R1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.1011.1011", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.998.998", "start_pos": 998, "end_pos": 998, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphotyrosine-dependent interaction of SHC and insulin receptor substrate 1 with the NPEY motif of the insulin receptor via a novel non-SH2 domain.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Gustafson TA, He W, Craparo A, Schaub CD, O'Neill TJ", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FLRKRQPDGPLGPLYASSNP", "down_seq": "YLSASDVFPCSVYVPDEWEV", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Does not affect interaction with IRS1, SHC1 or PIK3R1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.1011.1011", "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": "P06213-1.999.999", "start_pos": 999, "end_pos": 999, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of Stat 5B as a substrate of the insulin receptor.", "journal": "European journal of biochemistry", "date": "1997", "authors": "Sawka-Verhelle D, Filloux C, Tartare-Deckert S, Mothe I, Van Obberghen E", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9428692", "url": "https://glygen.org/publication/PubMed/9428692" } ] }, { "title": "Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "He W, O'Neill TJ, Gustafson TA", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" } ] }, { "title": "Mutation of the insulin receptor at tyrosine 960 inhibits signal transmission but does not affect its tyrosine kinase activity.", "journal": "Cell", "date": "1988", "authors": "White MF, Livingston JN, Backer JM, Lauris V, Dull TJ, Ullrich A, Kahn CR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "2842060", "url": "https://glygen.org/publication/PubMed/2842060" } ] }, { "title": "Phosphotyrosine-dependent interaction of SHC and insulin receptor substrate 1 with the NPEY motif of the insulin receptor via a novel non-SH2 domain.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Gustafson TA, He W, Craparo A, Schaub CD, O'Neill TJ", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "reference": [ { "type": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] }, { "title": "Insulin stimulates serine and tyrosine phosphorylation in the juxtamembrane region of the insulin receptor.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Feener EP, Backer JM, King GL, Wilden PA, Sun XJ, Kahn CR, White MF", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "8496180", "url": "https://glygen.org/publication/PubMed/8496180" } ] }, { "title": "Studies on the autophosphorylation of the insulin receptor from human placenta. Analysis of the sites phosphorylated by two-dimensional peptide mapping.", "journal": "The Biochemical journal", "date": "1988", "authors": "Tavare JM, Denton RM", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-74752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74752" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "9428692", "url": "https://glygen.org/publication/PubMed/9428692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "2842060", "url": "https://glygen.org/publication/PubMed/2842060", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "8496180", "url": "https://glygen.org/publication/PubMed/8496180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*", "database": "IntAct", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LRKRQPDGPLGPLYASSNPE", "down_seq": "LSASDVFPCSVYVPDEWEVS", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "E", "comment": "Abolishes interaction with IRS1 and SHC1.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "9428692", "url": "https://glygen.org/publication/PubMed/9428692" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" }, { "database": "PubMed", "id": "2842060", "url": "https://glygen.org/publication/PubMed/2842060" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Has no effect on insulin-stimulated autophosphorylation, but inhibits the biological activity of the receptor. Abolishes interaction with IRS1 and almost completely prevents interaction with SHC1. Has no effect on interaction with PIK3R1. Abolishes interaction with STAT5B.", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "9428692", "url": "https://glygen.org/publication/PubMed/9428692" }, { "database": "PubMed", "id": "7559478", "url": "https://glygen.org/publication/PubMed/7559478" }, { "database": "PubMed", "id": "2842060", "url": "https://glygen.org/publication/PubMed/2842060" }, { "database": "PubMed", "id": "7537849", "url": "https://glygen.org/publication/PubMed/7537849" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "8496180", "url": "https://glygen.org/publication/PubMed/8496180" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ], "site_lbl": "Tyr999" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "IntAct", "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "9428692", "url": "https://glygen.org/publication/PubMed/9428692" } ], "site_lbl": "Tyr999" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1001.1001", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.1011.1011", "categories": [ "mutagenesis_flag", "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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.284.284", "start_pos": 284, "end_pos": 284, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144988797", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144988797", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144988797", "url": "https://www.ensembl.org/id/rs2144988797", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CVETCPPPYYHFQDWRCVNF", "down_seq": "FCQDLHHKCKNSRRQGCHQY", "snv": [ { "evidence": [ { "id": "rs2144988797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144988797" }, { "id": "rs2144988797", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144988797" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SFC->NFC); n-glyco-sequon-loss (NFS->NFN).", "chr_id": "19", "chr_pos": "7184439", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S284", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P06213-1.282.282", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.294.294", "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": "P06213-1.1001.1001", "start_pos": 1001, "end_pos": 1001, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1398761702", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398761702", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1398761702", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398761702", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KRQPDGPLGPLYASSNPEYL", "down_seq": "ASDVFPCSVYVPDEWEVSRE", "snv": [ { "evidence": [ { "id": "rs1398761702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398761702" }, { "id": "rs1398761702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398761702" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "19", "chr_pos": "7126595", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1001", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P06213-1.991.991", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.992.992", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.994.994", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.995.995", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.996.996", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.996.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.997.997", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.998.998", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.999.999", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1000.1000", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1002.1002", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1003.1003", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.1011.1011", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1053.1053", "start_pos": 1053, "end_pos": 1053, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SFGMVYEGNARDIIKGEAET", "down_seq": "VAVKTVNESASLRERIEFLN", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "7125383", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1053", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.1033.1033", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1057.1057", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.1062.1062", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1064.1064", "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": "P06213-1.107.107", "start_pos": 107, "end_pos": 107, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1248231684", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248231684", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1248231684", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248231684", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs140762552", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140762552", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140762552", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140762552", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs140762552", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140762552#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs140762552", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140762552", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs140762552", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140762552", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YLLLFRVYGLESLKDLFPNL", "down_seq": "VIRGSRLFFNYALVIFEMVH", "snv": [ { "evidence": [ { "id": "rs1248231684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248231684" }, { "id": "rs1248231684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248231684" } ], "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": "19", "chr_pos": "7267678", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs140762552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140762552" }, { "id": "rs140762552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140762552" }, { "id": "rs140762552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140762552#frequency_tab" }, { "id": "rs140762552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140762552" }, { "id": "rs140762552", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140762552" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLM).", "chr_id": "19", "chr_pos": "7267677", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T107", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.105.105", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.119.119", "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", "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": "P06213-1.1128.1128", "start_pos": 1128, "end_pos": 1128, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HGDLKSYLRSLRPEAENNPG", "down_seq": "PPPTLQEMIQMAAEIADGMA", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7122760", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1128", "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: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1187.1187", "start_pos": 1187, "end_pos": 1187, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VAHDFTVKIGDFGMTRDIYE", "down_seq": "DYYRKGGKGLLPVRWMAPES", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7120719", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1187", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P06213-1.1185.1185", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1189.1189", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1190.1190", "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": "P06213-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs929761465", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs929761465", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs929761465", "url": "http://gnomad.broadinstitute.org/awesome?query=rs929761465", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LKDLFPNLTVIRGSRLFFNY", "down_seq": "LVIFEMVHLKELGLYNLMNI", "snv": [ { "evidence": [ { "id": "rs929761465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs929761465" }, { "id": "rs929761465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs929761465" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYA->NYT).", "chr_id": "19", "chr_pos": "7267642", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A119", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P06213-1.105.105", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P06213-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.138.138", "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": "P06213-1.1259.1259", "start_pos": 1259, "end_pos": 1259, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs369102740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369102740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs369102740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369102740", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs369102740", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369102740#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs369102740", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369102740", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs369102740", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369102740", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GLSNEQVLKFVMDGGYLDQP", "down_seq": "NCPERVTDLMRMCWQFNPKM", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs369102740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369102740" }, { "id": "rs369102740", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369102740" }, { "id": "rs369102740", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369102740#frequency_tab" }, { "id": "rs369102740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369102740" }, { "id": "rs369102740", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369102740" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DNC->NNC).", "chr_id": "19", "chr_pos": "7119468", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1259", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0070220", "recommended_name": { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "familial hyperinsulinemic hypoglycemia 5", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "hyperinsulinemic hypoglycemia due to INSR deficiency", "description": "" }, { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "HHF5", "description": "" }, { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "description": "" }, { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "hyperinsulinism due to INSR deficiency", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinism due to INSR deficiency", "description": "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia due to INSR deficiency", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia, familial, type 5", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "HHF5", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia, familial, 5", "description": "" }, { "id": "MIM:609968", "resource": "MIM", "url": "https://www.omim.org/entry/609968", "name": "Hyperinsulinemic hypoglycemia, familial, 5", "description": "Hyperinsulinemic hypoglycemia, familial, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070220" }, { "id": "0070220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070220" } ] }, { "disease_id": "DOID:0050470", "recommended_name": { "id": "DOID:0050470", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050470", "name": "Donohue syndrome", "description": "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor." }, "synonyms": [ { "id": "DOID:0050470", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050470", "name": "Leprechaunism", "description": "" }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "Donohue syndrome", "description": "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "Donohue syndrome", "description": "" }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "Leprechaunism", "description": "" }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "leprechaunism", "description": "" }, { "id": "MIM:246200", "resource": "MIM", "url": "https://www.omim.org/entry/246200", "name": "Leprechaunism", "description": "Leprechaunism" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050470" }, { "id": "0050470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050470" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "P06213-1.1263.1263", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1270.1270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1263.1263", "start_pos": 1263, "end_pos": 1263, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EQVLKFVMDGGYLDQPDNCP", "down_seq": "RVTDLMRMCWQFNPKMRPTF", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7119456", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E1263", "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:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.1259.1259", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1270.1270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1270.1270", "start_pos": 1270, "end_pos": 1270, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MDGGYLDQPDNCPERVTDLM", "down_seq": "MCWQFNPKMRPTFLEIVNLL", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7117397", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1270", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.1259.1259", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.1263.1263", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1328.1328", "start_pos": 1328, "end_pos": 1328, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ENKAPESEELEMEFEDMENV", "down_seq": "LDRSSHCQREEAGGRDGGSS", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "19", "chr_pos": "7117223", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1328", "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": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "19", "chr_pos": "7117223", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1328", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P06213-1.1314.1314", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1332.1332", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1333.1333", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.1348.1348", "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": "P06213-1.1340.1340", "start_pos": 1340, "end_pos": 1340, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EFEDMENVPLDRSSHCQREE", "down_seq": "GGRDGGSSLGFKRSYEEHIP", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7117186", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1340", "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: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P06213-1.1328.1328", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.1332.1332", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.1333.1333", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1343.1343", "start_pos": 1343, "end_pos": 1343, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DMENVPLDRSSHCQREEAGG", "down_seq": "DGGSSLGFKRSYEEHIPYTH", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7117177", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1343", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.1328.1328", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.1332.1332", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.1333.1333", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.1362.1362", "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": "P06213-1.1356.1356", "start_pos": 1356, "end_pos": 1356, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QREEAGGRDGGSSLGFKRSY", "down_seq": "EHIPYTHMNGGKKNGRILTL", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7117139", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1356", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1362.1362", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.1375.1375", "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": "P06213-1.1378.1378", "start_pos": 1378, "end_pos": 1378, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HIPYTHMNGGKKNGRILTLP", "down_seq": "SNPS", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7117073", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1378", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P06213-1.1362.1362", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.1375.1375", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1381.1381", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1381.1381", "start_pos": 1381, "end_pos": 1381, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YTHMNGGKKNGRILTLPRSN", "down_seq": "", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "19", "chr_pos": "7117063", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1381", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7117064", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1381", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P06213-1.1362.1362", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.1375.1375", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.1378.1378", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "P06213-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LVIFEMVHLKELGLYNLMNI", "down_seq": "RGSVRIEKNNELCYLATIDW", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIT->NII).", "chr_id": "19", "chr_pos": "7267578", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T140", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P06213-1.138.138", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VIFEMVHLKELGLYNLMNIT", "down_seq": "GSVRIEKNNELCYLATIDWS", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "7267576", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P06213-1.138.138", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "P06213-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ITRGSVRIEKNNELCYLATI", "down_seq": "WSRILDSVEDNYIVLNKDDN", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "19", "chr_pos": "7267522", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D159", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P06213-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.162.162", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GSVRIEKNNELCYLATIDWS", "down_seq": "ILDSVEDNYIVLNKDDNEEC", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7267513", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R162", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P06213-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YIVLNKDDNEECGDICPGTA", "down_seq": "GKTNCPATVINGQFVERCWT", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7267424", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K191", "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:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P06213-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.208.208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1967768578", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1967768578", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1967768578", "url": "https://www.ensembl.org/id/rs1967768578", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DDNEECGDICPGTAKGKTNC", "down_seq": "ATVINGQFVERCWTHSHCQK", "snv": [ { "evidence": [ { "id": "rs1967768578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1967768578" }, { "id": "rs1967768578", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1967768578" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCP->NCT).", "chr_id": "19", "chr_pos": "7267408", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P197", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P06213-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.208.208", "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": "P06213-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EECGDICPGTAKGKTNCPAT", "down_seq": "INGQFVERCWTHSHCQKVCP", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7267399", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V200", "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: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P06213-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.208.208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.208.208", "start_pos": 208, "end_pos": 208, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GTAKGKTNCPATVINGQFVE", "down_seq": "CWTHSHCQKVCPTICKSHGC", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7267374", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R208", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.200.200", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "THSHCQKVCPTICKSHGCTA", "down_seq": "GLCCHSECLGNCSQPDDPTK", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7184599", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E231", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P06213-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.242.242", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.247.247", "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": "P06213-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1974369887", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1974369887", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1974369887", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1974369887#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KVCPTICKSHGCTAEGLCCH", "down_seq": "ECLGNCSQPDDPTKCVACRN", "snv": [ { "evidence": [ { "id": "rs1974369887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1974369887" }, { "id": "rs1974369887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1974369887#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 (SEC->NEC).", "chr_id": "19", "chr_pos": "7184580", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S237", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P06213-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.242.242", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.247.247", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1187492281", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187492281", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1187492281", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1187492281#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1187492281", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187492281", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSHGCTAEGLCCHSECLGNC", "down_seq": "QPDDPTKCVACRNFYLDGRC", "snv": [ { "evidence": [ { "id": "rs1187492281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187492281" }, { "id": "rs1187492281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1187492281#frequency_tab" }, { "id": "rs1187492281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187492281" } ], "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": "19", "chr_pos": "7184559", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.242.242", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.247.247", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GCTAEGLCCHSECLGNCSQP", "down_seq": "DPTKCVACRNFYLDGRCVET", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7184551", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D247", "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: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P06213-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.242.242", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P06213-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HFQDWRCVNFSFCQDLHHKC", "down_seq": "NSRRQGCHQYVIHNNKCIPE", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "19", "chr_pos": "7184408", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K294", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P06213-1.282.282", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.284.284", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "M", "down_seq": "TGGRRGAAAAPLLVAVAALL", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "11", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: patient count (11/4799).", "chr_id": "19", "chr_pos": "7293887", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A2", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs370295429", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370295429", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1974359616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1974359616", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1974359616", "url": "https://www.ensembl.org/id/rs1974359616", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YVIHNNKCIPECPSGYTMNS", "down_seq": "NLLCTPCLGPCPKVCHLLEG", "snv": [ { "evidence": [ { "id": "rs370295429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370295429" } ], "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 (NSS->NSG).", "chr_id": "19", "chr_pos": "7184320", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs1974359616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1974359616" }, { "id": "rs1974359616", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1974359616" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSN).", "chr_id": "19", "chr_pos": "7184319", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S324", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P06213-1.322.322", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.362.362", "start_pos": 362, "end_pos": 362, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LEGEKTIDSVTSAQELRGCT", "down_seq": "INGSLIINIRGGNNLAAELE", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7174622", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V362", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P06213-1.364.364", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.366.366", "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": "P06213-1.366.366", "start_pos": 366, "end_pos": 366, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1429401646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429401646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1429401646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429401646", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KTIDSVTSAQELRGCTVING", "down_seq": "LIINIRGGNNLAAELEANLG", "snv": [ { "evidence": [ { "id": "rs1429401646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429401646" }, { "id": "rs1429401646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429401646" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGN).", "chr_id": "19", "chr_pos": "7174609", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S366", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.364.364", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.386.386", "start_pos": 386, "end_pos": 386, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs764221583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764221583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764221583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764221583", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764221583", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764221583#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764221583", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764221583", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SLIINIRGGNNLAAELEANL", "down_seq": "LIEEISGYLKIRRSYALVSL", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLC).", "chr_id": "19", "chr_pos": "7172402", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G386", "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": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs764221583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764221583" }, { "id": "rs764221583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764221583" }, { "id": "rs764221583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764221583#frequency_tab" }, { "id": "rs764221583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764221583" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "19", "chr_pos": "7172402", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G386", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.400.400", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.401.401", "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": "P06213-1.390.390", "start_pos": 390, "end_pos": 390, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NIRGGNNLAAELEANLGLIE", "down_seq": "ISGYLKIRRSYALVSLSFFR", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7172390", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E390", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.400.400", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.401.401", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.407.407", "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": "P06213-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AELEANLGLIEEISGYLKIR", "down_seq": "SYALVSLSFFRKLRLIRGET", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7172362", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R399", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.400.400", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.401.401", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.407.407", "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": "P06213-1.436.436", "start_pos": 436, "end_pos": 436, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RGETLEIGNYSFYALDNQNL", "down_seq": "QLWDWSKHNLTITQGKLFFH", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLS).", "chr_id": "19", "chr_pos": "7170712", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R436", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P06213-1.424.424", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.440.440", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.445.445", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.447.447", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.440.440", "start_pos": 440, "end_pos": 440, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1375755714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375755714", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1375755714", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1375755714#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1375755714", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375755714", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LEIGNYSFYALDNQNLRQLW", "down_seq": "WSKHNLTITQGKLFFHYNPK", "snv": [ { "evidence": [ { "id": "rs1375755714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375755714" }, { "id": "rs1375755714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1375755714#frequency_tab" }, { "id": "rs1375755714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375755714" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "19", "chr_pos": "7170702", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D440", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P06213-1.424.424", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.445.445", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.447.447", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.447.447", "start_pos": 447, "end_pos": 447, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1973996988", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1973996988", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1973996988", "url": "https://www.ensembl.org/id/rs1973996988", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FYALDNQNLRQLWDWSKHNL", "down_seq": "ITQGKLFFHYNPKLCLSEIH", "snv": [ { "evidence": [ { "id": "rs1973996988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1973996988" }, { "id": "rs1973996988", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1973996988" } ], "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": "19", "chr_pos": "7170681", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T447", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.440.440", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.445.445", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.462.462", "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": "P06213-1.478.478", "start_pos": 478, "end_pos": 478, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NPKLCLSEIHKMEEVSGTKG", "down_seq": "QERNDIALKTNGDQASCENE", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7170588", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R478", "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" ] }, { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7170587", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R478", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P06213-1.462.462", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.473.473", "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": "P06213-1.543.543", "start_pos": 543, "end_pos": 543, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs767160876", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767160876", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767160876", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767160876", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767160876", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767160876#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767160876", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767160876", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs767160876", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767160876", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs2144939544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144939544", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144939544", "url": "https://www.ensembl.org/id/rs2144939544", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DFRDLLGFMLFYKEAPYQNV", "down_seq": "EFDGQDACGSNSWTVVDIDP", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs767160876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767160876" }, { "id": "rs767160876", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767160876" }, { "id": "rs767160876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767160876#frequency_tab" }, { "id": "rs767160876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767160876" }, { "id": "rs767160876", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767160876" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "19", "chr_pos": "7166387", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T543", "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:0070220", "recommended_name": { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "familial hyperinsulinemic hypoglycemia 5", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "hyperinsulinemic hypoglycemia due to INSR deficiency", "description": "" }, { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "HHF5", "description": "" }, { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "description": "" }, { "id": "DOID:0070220", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070220", "name": "hyperinsulinism due to INSR deficiency", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinism due to INSR deficiency", "description": "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia due to INSR deficiency", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia, familial, type 5", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "HHF5", "description": "" }, { "id": "MONDO:0012381", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012381", "name": "hyperinsulinemic hypoglycemia, familial, 5", "description": "" }, { "id": "MIM:609968", "resource": "MIM", "url": "https://www.omim.org/entry/609968", "name": "Hyperinsulinemic hypoglycemia, familial, 5", "description": "Hyperinsulinemic hypoglycemia, familial, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070220" }, { "id": "0070220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070220" } ] }, { "disease_id": "DOID:0050470", "recommended_name": { "id": "DOID:0050470", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050470", "name": "Donohue syndrome", "description": "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor." }, "synonyms": [ { "id": "DOID:0050470", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050470", "name": "Leprechaunism", "description": "" }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "Donohue syndrome", "description": "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "Donohue syndrome", "description": "" }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "Leprechaunism", "description": "" }, { "id": "MONDO:0009517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009517", "name": "leprechaunism", "description": "" }, { "id": "MIM:246200", "resource": "MIM", "url": "https://www.omim.org/entry/246200", "name": "Leprechaunism", "description": "Leprechaunism" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050470" }, { "id": "0050470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050470" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2144939544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144939544" }, { "id": "rs2144939544", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144939544" } ], "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 (NVT->NVP).", "chr_id": "19", "chr_pos": "7166388", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T543", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P06213-1.541.541", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "P06213-1.576.576", "start_pos": 576, "end_pos": 576, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "WTVVDIDPPLRSNDPKSQNH", "down_seq": "GWLMRGLKPWTQYAIFVKTL", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHP->NHS).", "chr_id": "19", "chr_pos": "7166289", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P576", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "P06213-1.581.581", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.581.581", "start_pos": 581, "end_pos": 581, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IDPPLRSNDPKSQNHPGWLM", "down_seq": "GLKPWTQYAIFVKTLVTFSD", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "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": "19", "chr_pos": "7166273", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R581", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P06213-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.600.600", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.600.600", "start_pos": 600, "end_pos": 600, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MRGLKPWTQYAIFVKTLVTF", "down_seq": "DERRTYGAKSDIIYVQTDAT", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7166216", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S600", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.604.604", "start_pos": 604, "end_pos": 604, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KPWTQYAIFVKTLVTFSDER", "down_seq": "TYGAKSDIIYVQTDATNPSV", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7166204", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R604", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P06213-1.600.600", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.618.618", "start_pos": 618, "end_pos": 618, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765441238", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765441238", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765441238", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765441238", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765441238", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765441238#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765441238", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765441238", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TFSDERRTYGAKSDIIYVQT", "down_seq": "ATNPSVPLDPISVSNSSSQI", "snv": [ { "evidence": [ { "id": "rs765441238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765441238" }, { "id": "rs765441238", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765441238" }, { "id": "rs765441238", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765441238#frequency_tab" }, { "id": "rs765441238", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765441238" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "19", "chr_pos": "7166163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D618", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P06213-1.600.600", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P06213-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.633.633", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.635.635", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.635.635", "start_pos": 635, "end_pos": 635, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VQTDATNPSVPLDPISVSNS", "down_seq": "SQIILKWKPPSDPNGNITHY", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSP).", "chr_id": "19", "chr_pos": "7163158", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S635", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.618.618", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.633.633", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.651.651", "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": "P06213-1.690.690", "start_pos": 690, "end_pos": 690, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ELDYCLKGLKLPSRTWSPPF", "down_seq": "SEDSQKHNQSEYEDSAGECC", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7152889", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E690", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P06213-1.698.698", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.700.700", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.708.708", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.700.700", "start_pos": 700, "end_pos": 700, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1381125977", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381125977", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1381125977", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381125977", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LPSRTWSPPFESEDSQKHNQ", "down_seq": "EYEDSAGECCSCPKTDSQIL", "snv": [ { "evidence": [ { "id": "rs1381125977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381125977" }, { "id": "rs1381125977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381125977" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->NQR).", "chr_id": "19", "chr_pos": "7152857", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S700", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P06213-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.698.698", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.708.708", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.708.708", "start_pos": 708, "end_pos": 708, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PFESEDSQKHNQSEYEDSAG", "down_seq": "CCSCPKTDSQILKELEESSF", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7152835", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E708", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P06213-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.698.698", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.700.700", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.727.727", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.727.727", "start_pos": 727, "end_pos": 727, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GECCSCPKTDSQILKELEES", "down_seq": "FRKTFEDYLHNVVFVPRKTS", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7152777", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S727", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.708.708", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.746.746", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.746.746", "start_pos": 746, "end_pos": 746, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1318732827", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318732827", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1318732827", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318732827#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1318732827", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318732827", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SSFRKTFEDYLHNVVFVPRK", "down_seq": "SSGTGAEDPRPSRKRRSLGD", "snv": [ { "evidence": [ { "id": "rs1318732827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318732827" }, { "id": "rs1318732827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318732827#frequency_tab" }, { "id": "rs1318732827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318732827" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "19", "chr_pos": "7150527", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T746", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.727.727", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P06213-1.758.758", "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": "P06213-1.771.771", "start_pos": 771, "end_pos": 771, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs773661946", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773661946", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773661946", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773661946", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773661946", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773661946#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773661946", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773661946", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs773661946", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773661946", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GAEDPRPSRKRRSLGDVGNV", "down_seq": "VAVPTVAAFPNTSSTSVPTS", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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: n-glyco-sequon-loss (NVT->NVA).", "chr_id": "19", "chr_pos": "7143047", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T771", "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": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs773661946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773661946" }, { "id": "rs773661946", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773661946" }, { "id": "rs773661946", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773661946#frequency_tab" }, { "id": "rs773661946", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773661946" }, { "id": "rs773661946", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773661946" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "19", "chr_pos": "7143046", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T771", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.758.758", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.769.769", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.782.782", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.784.784", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.786.786", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.790.790", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.791.791", "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": "P06213-1.784.784", "start_pos": 784, "end_pos": 784, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753688285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753688285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753688285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753688285", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753688285", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753688285#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753688285", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753688285", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753688285", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753688285", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LGDVGNVTVAVPTVAAFPNT", "down_seq": "STSVPTSPEEHRPFEKVVNK", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" }, { "id": "rs753688285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753688285" }, { "id": "rs753688285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753688285" }, { "id": "rs753688285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753688285#frequency_tab" }, { "id": "rs753688285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753688285" }, { "id": "rs753688285", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753688285" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->NTF).", "chr_id": "19", "chr_pos": "7143007", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S784", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.769.769", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P06213-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.782.782", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.786.786", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.790.790", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.791.791", "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": "P06213-1.906.906", "start_pos": 906, "end_pos": 906, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VSYRRYGDEELHLCVSRKHF", "down_seq": "LERGCRLRGLSPGNYSVRIR", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "55594", "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": "7132284", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A906", "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: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "P06213-1.920.920", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.922.922", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.922.922", "start_pos": 922, "end_pos": 922, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2512304479", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512304479", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKHFALERGCRLRGLSPGNY", "down_seq": "VRIRATSLAGNGSWTEPTYF", "snv": [ { "evidence": [ { "id": "rs2512304479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512304479" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYS->NYN).", "chr_id": "19", "chr_pos": "7132235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S922", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P06213-1.906.906", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.920.920", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.933.933", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.941.941", "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": "P06213-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DFRDLSFPKLIMITDYLLLF", "down_seq": "VYGLESLKDLFPNLTVIRGS", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7267722", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R92", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "P06213-1.105.105", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.107.107", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.935.935", "start_pos": 935, "end_pos": 935, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLSPGNYSVRIRATSLAGNG", "down_seq": "WTEPTYFYVTDYLDVPSNIA", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGF).", "chr_id": "19", "chr_pos": "7132196", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S935", "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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.920.920", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P06213-1.922.922", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.933.933", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.941.941", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.946.946", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.955.955", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.937.937", "start_pos": 937, "end_pos": 937, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SPGNYSVRIRATSLAGNGSW", "down_seq": "EPTYFYVTDYLDVPSNIAKI", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "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": "7132190", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T937", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.920.920", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P06213-1.922.922", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.933.933", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.941.941", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.946.946", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.955.955", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.946.946", "start_pos": 946, "end_pos": 946, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P06213", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RATSLAGNGSWTEPTYFYVT", "down_seq": "YLDVPSNIAKIIIGPLIFVF", "snv": [ { "evidence": [ { "id": "P06213", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06213" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "7132164", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D946", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P06213-1.933.933", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.941.941", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P06213-1.955.955", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.955.955", "start_pos": 955, "end_pos": 955, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1165168818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165168818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1165168818", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165168818#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1165168818", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165168818", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SWTEPTYFYVTDYLDVPSNI", "down_seq": "KIIIGPLIFVFLFSVVIGSI", "snv": [ { "evidence": [ { "id": "rs1165168818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165168818" }, { "id": "rs1165168818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165168818#frequency_tab" }, { "id": "rs1165168818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165168818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "19", "chr_pos": "7128934", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A955", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P06213-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P06213-1.941.941", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P06213-1.946.946", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P06213-1.1033.1033", "start_pos": 1033, "end_pos": 1033, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "TANK-binding kinase 1 mediates phosphorylation of insulin receptor at serine residue 994: a potential link between inflammation and insulin resistance.", "journal": "The Journal of endocrinology", "date": "2009", "authors": "Munoz MC, Giani JF, Mayer MA, Toblli JE, Turyn D, Dominici FP", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "19251743", "url": "https://glygen.org/publication/PubMed/19251743" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19251743", "url": "https://glygen.org/publication/PubMed/19251743", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PDEWEVSREKITLLRELGQG", "down_seq": "FGMVYEGNARDIIKGEAETR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9UHD2-1", "kinase_gene_name": "TBK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "19251743", "url": "https://glygen.org/publication/PubMed/19251743" } ], "site_lbl": "Ser1033" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "P06213-1.1053.1053", "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": "P06213-1.1062.1062", "start_pos": 1062, "end_pos": 1062, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of serines-1035/1037 in the kinase domain of the insulin receptor as protein kinase C alpha mediated phosphorylation sites.", "journal": "FEBS letters", "date": "1994", "authors": "Liu F, Roth RA", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "7926007", "url": "https://glygen.org/publication/PubMed/7926007" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "7926007", "url": "https://glygen.org/publication/PubMed/7926007", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ARDIIKGEAETRVAVKTVNE", "down_seq": "ASLRERIEFLNEASVMKGFT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "7926007", "url": "https://glygen.org/publication/PubMed/7926007" } ], "site_lbl": "Ser1062" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P06213-1.1053.1053", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.1057.1057", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1064.1064", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.1079.1079", "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": "P06213-1.1064.1064", "start_pos": 1064, "end_pos": 1064, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of serines-1035/1037 in the kinase domain of the insulin receptor as protein kinase C alpha mediated phosphorylation sites.", "journal": "FEBS letters", "date": "1994", "authors": "Liu F, Roth RA", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "7926007", "url": "https://glygen.org/publication/PubMed/7926007" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "7926007", "url": "https://glygen.org/publication/PubMed/7926007", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DIIKGEAETRVAVKTVNESA", "down_seq": "LRERIEFLNEASVMKGFTCH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "7926007", "url": "https://glygen.org/publication/PubMed/7926007" } ], "site_lbl": "Ser1064" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.1053.1053", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.1057.1057", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.1062.1062", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.1079.1079", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.1083.1083", "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": "P06213-1.1185.1185", "start_pos": 1185, "end_pos": 1185, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] }, { "title": "A mutant insulin receptor induces formation of a Shc-growth factor receptor bound protein 2 (Grb2) complex and p21ras-GTP without detectable interaction of insulin receptor substrate 1 (IRS1) with Grb2. Evidence for IRS1-independent p21ras-GTP formation.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Ouwens DM, van der Zon GC, Pronk GJ, Bos JL, Moller W, Cheatham B, Kahn CR, Maassen JA", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540" } ] }, { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] }, { "title": "Identification of insulin receptor tyrosine residues autophosphorylated in vitro.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tornqvist HE, Pierce MW, Frackelton AR, Nemenoff RA, Avruch J", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" } ] }, { "title": "Structural basis for recruitment of the adaptor protein APS to the activated insulin receptor.", "journal": "Molecular cell", "date": "2003", "authors": "Hu J, Liu J, Ghirlando R, Saltiel AR, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593" } ] }, { "title": "An enzyme-linked immunosorbent assay to measure insulin receptor dephosphorylation by PTP1B.", "journal": "Analytical biochemistry", "date": "2007-06-15", "authors": "Zhang Yan-Ling, Tam May, Kirincich Steve, Wan Zhao-Kui, Wilson Doug, Wu Jun Jun, Lee Jinbo, Tobin James F, Erbe David V", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567" } ] }, { "title": "Molecular basis for the dephosphorylation of the activation segment of the insulin receptor by protein tyrosine phosphatase 1B.", "journal": "Molecular cell", "date": "2000-12", "authors": "Salmeen A, Andersen J N, Myers M P, Tonks N K, Barford D", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213" } ] }, { "title": "Adapter function of protein-tyrosine phosphatase 1D in insulin receptor/insulin receptor substrate-1 interaction.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kharitonenkov A, Schnekenburger J, Chen Z, Knyazev P, Ali S, Zwick E, White M, Ullrich A", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "7493946", "url": "https://glygen.org/publication/PubMed/7493946" } ] }, { "title": "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase.", "journal": "The Biochemical journal", "date": "1998", "authors": "Kotani K, Wilden P, Pillay TS", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" } ] }, { "title": "Stearic acid serves as a potent inhibitor of protein tyrosine phosphatase 1B.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2013", "authors": "Tsuchiya A, Kanno T, Nishizaki T", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "24296476", "url": "https://glygen.org/publication/PubMed/24296476" } ] }, { "title": "Structural basis for inhibition of the insulin receptor by the adaptor protein Grb14.", "journal": "Molecular cell", "date": "2005", "authors": "Depetris RS, Hu J, Gimpelevich I, Holt LJ, Daly RJ, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733" } ] }, { "title": "Crystal structure of a complex between protein tyrosine phosphatase 1B and the insulin receptor tyrosine kinase.", "journal": "Structure (London, England : 1993)", "date": "2005", "authors": "Li S, Depetris RS, Barford D, Chernoff J, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-77387", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77387" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887" } ] }, { "title": "Structural and biochemical characterization of the KRLB region in insulin receptor substrate-2.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Wu J, Tseng YD, Xu CF, Neubert TA, White MF, Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056" } ] }, { "title": "Identification of a key element for hydrogen-bonding patterns between protein kinases and their inhibitors.", "journal": "Proteins", "date": "2008", "authors": "Katayama N, Orita M, Yamaguchi T, Hisamichi H, Kuromitsu S, Kurihara H, Sakashita H, Matsumoto Y, Fujita S, Niimi T", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165" } ] }, { "title": "Studies on the autophosphorylation of the insulin receptor from human placenta. Analysis of the sites phosphorylated by two-dimensional peptide mapping.", "journal": "The Biochemical journal", "date": "1988", "authors": "Tavare JM, Denton RM", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-74752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74752" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ] }, { "title": "Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog.", "journal": "The EMBO journal", "date": "1997", "authors": "Hubbard SR", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7493946", "url": "https://glygen.org/publication/PubMed/7493946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24296476", "url": "https://glygen.org/publication/PubMed/24296476", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CMVAHDFTVKIGDFGMTRDI", "down_seq": "ETDYYRKGGKGLLPVRWMAP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "7806540", "url": "https://glygen.org/publication/PubMed/7806540" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" }, { "database": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "14690593", "url": "https://glygen.org/publication/PubMed/14690593" } ], "site_lbl": "Tyr1185" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "IntAct", "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "17481567", "url": "https://glygen.org/publication/PubMed/17481567" }, { "database": "PubMed", "id": "11163213", "url": "https://glygen.org/publication/PubMed/11163213" }, { "database": "PubMed", "id": "7493946", "url": "https://glygen.org/publication/PubMed/7493946" }, { "database": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" }, { "database": "PubMed", "id": "24296476", "url": "https://glygen.org/publication/PubMed/24296476" }, { "database": "PubMed", "id": "16246733", "url": "https://glygen.org/publication/PubMed/16246733" }, { "database": "PubMed", "id": "16271887", "url": "https://glygen.org/publication/PubMed/16271887" }, { "database": "PubMed", "id": "18278056", "url": "https://glygen.org/publication/PubMed/18278056" }, { "database": "PubMed", "id": "18767165", "url": "https://glygen.org/publication/PubMed/18767165" }, { "database": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" }, { "database": "PubMed", "id": "9312016", "url": "https://glygen.org/publication/PubMed/9312016" } ], "site_lbl": "Tyr1185" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P06213-1.1187.1187", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P06213-1.1189.1189", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.1190.1190", "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": 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": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.1314.1314", "start_pos": 1314, "end_pos": 1314, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LHPSFPEVSFFHSEENKAPE", "down_seq": "EELEMEFEDMENVPLDRSSH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ], "site_lbl": "Ser1314" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ], "site_lbl": "Ser1314" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "P06213-1.1328.1328", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P06213-1.1332.1332", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.1333.1333", "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": 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": "P06213-1.1332.1332", "start_pos": 1332, "end_pos": 1332, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Insulin-sensitive phosphorylation of serine 1293/1294 on the human insulin receptor by a tightly associated serine kinase.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Lewis RE, Wu GP, MacDonald RG, Czech MP", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "2136851", "url": "https://glygen.org/publication/PubMed/2136851" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "2136851", "url": "https://glygen.org/publication/PubMed/2136851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PESEELEMEFEDMENVPLDR", "down_seq": "SHCQREEAGGRDGGSSLGFK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "2136851", "url": "https://glygen.org/publication/PubMed/2136851" } ], "site_lbl": "Ser1332" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P06213-1.1314.1314", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.1328.1328", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1333.1333", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.1348.1348", "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": "P06213-1.1333.1333", "start_pos": 1333, "end_pos": 1333, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Insulin-sensitive phosphorylation of serine 1293/1294 on the human insulin receptor by a tightly associated serine kinase.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Lewis RE, Wu GP, MacDonald RG, Czech MP", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "2136851", "url": "https://glygen.org/publication/PubMed/2136851" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "2136851", "url": "https://glygen.org/publication/PubMed/2136851", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ESEELEMEFEDMENVPLDRS", "down_seq": "HCQREEAGGRDGGSSLGFKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "2136851", "url": "https://glygen.org/publication/PubMed/2136851" } ], "site_lbl": "Ser1333" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.1314.1314", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.1328.1328", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1332.1332", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P06213-1.1348.1348", "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": "P06213-1.1348.1348", "start_pos": 1348, "end_pos": 1348, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PLDRSSHCQREEAGGRDGGS", "down_seq": "LGFKRSYEEHIPYTHMNGGK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ], "site_lbl": "Ser1348" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ], "site_lbl": "Ser1348" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.1328.1328", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P06213-1.1332.1332", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P06213-1.1333.1333", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.1362.1362", "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": 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": "P06213-1.1354.1354", "start_pos": 1354, "end_pos": 1354, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Phorbol ester stimulates phosphorylation on serine 1327 of the human insulin receptor.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Lewis RE, Volle DJ, Sanderson SD", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "7929343", "url": "https://glygen.org/publication/PubMed/7929343" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7929343", "url": "https://glygen.org/publication/PubMed/7929343", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HCQREEAGGRDGGSSLGFKR", "down_seq": "YEEHIPYTHMNGGKKNGRIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "7929343", "url": "https://glygen.org/publication/PubMed/7929343" } ], "site_lbl": "Ser1354" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P06213-1.1362.1362", "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": "P06213-1.1355.1355", "start_pos": 1355, "end_pos": 1355, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "Identification of insulin receptor tyrosine residues autophosphorylated in vitro.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tornqvist HE, Pierce MW, Frackelton AR, Nemenoff RA, Avruch J", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" } ] }, { "title": "Studies on the autophosphorylation of the insulin receptor from human placenta. Analysis of the sites phosphorylated by two-dimensional peptide mapping.", "journal": "The Biochemical journal", "date": "1988", "authors": "Tavare JM, Denton RM", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-74752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74752" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CQREEAGGRDGGSSLGFKRS", "down_seq": "EEHIPYTHMNGGKKNGRILT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" }, { "database": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ], "site_lbl": "Tyr1355" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "site_lbl": "Tyr1355" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.1340.1340", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.1362.1362", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.1375.1375", "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": 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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.1361.1361", "start_pos": 1361, "end_pos": 1361, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of Ser(1275) and Ser(1309) as autophosphorylation sites of the human insulin receptor in intact cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Tennagels N, Telting D, Parvaresch S, Maassen JA, Klein HW", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "Identification of insulin receptor tyrosine residues autophosphorylated in vitro.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tornqvist HE, Pierce MW, Frackelton AR, Nemenoff RA, Avruch J", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" } ] }, { "title": "Studies on the autophosphorylation of the insulin receptor from human placenta. Analysis of the sites phosphorylated by two-dimensional peptide mapping.", "journal": "The Biochemical journal", "date": "1988", "authors": "Tavare JM, Denton RM", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "Reactome", "id": "R-HSA-74752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74752" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GGRDGGSSLGFKRSYEEHIP", "down_seq": "THMNGGKKNGRILTLPRSNP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06213-1", "kinase_gene_name": "INSR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "11401470", "url": "https://glygen.org/publication/PubMed/11401470" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" }, { "database": "PubMed", "id": "3038872", "url": "https://glygen.org/publication/PubMed/3038872" }, { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "3166375", "url": "https://glygen.org/publication/PubMed/3166375" } ], "site_lbl": "Tyr1361" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "site_lbl": "Tyr1361" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.1362.1362", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.1375.1375", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.1378.1378", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P06213-1.1381.1381", "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": 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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P06213-1.1362.1362", "start_pos": 1362, "end_pos": 1362, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Interaction of the human insulin receptor tyrosine kinase from the baculovirus expression system with protein kinase C in a cell-free system.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Ahn J, Donner DB, Rosen OM", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "8463287", "url": "https://glygen.org/publication/PubMed/8463287" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "8463287", "url": "https://glygen.org/publication/PubMed/8463287", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GRDGGSSLGFKRSYEEHIPY", "down_seq": "HMNGGKKNGRILTLPRSNPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "8463287", "url": "https://glygen.org/publication/PubMed/8463287" } ], "site_lbl": "Thr1362" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.1343.1343", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P06213-1.1348.1348", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.1354.1354", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P06213-1.1375.1375", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P06213-1.1378.1378", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P06213-1.1381.1381", "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": "P06213-1.1375.1375", "start_pos": 1375, "end_pos": 1375, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Protein kinase phosphorylation site sequences and consensus specificity motifs: tabulations.", "journal": "Methods in enzymology", "date": "1991", "authors": "Pearson RB, Kemp BE", "evidence": [ { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "1956339", "url": "https://glygen.org/publication/PubMed/1956339" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "1956339", "url": "https://glygen.org/publication/PubMed/1956339", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YEEHIPYTHMNGGKKNGRIL", "down_seq": "LPRSNPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "1956339", "url": "https://glygen.org/publication/PubMed/1956339" } ], "site_lbl": "Thr1375" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P06213-1.1355.1355", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P06213-1.1356.1356", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P06213-1.1361.1361", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P06213-1.1362.1362", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P06213-1.1378.1378", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.1381.1381", "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": "P06213-1.400.400", "start_pos": 400, "end_pos": 400, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ELEANLGLIEEISGYLKIRR", "down_seq": "YALVSLSFFRKLRLIRGETL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "site_lbl": "Ser400" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P06213-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P06213-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P06213-1.401.401", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P06213-1.407.407", "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": "P06213-1.401.401", "start_pos": 401, "end_pos": 401, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LEANLGLIEEISGYLKIRRS", "down_seq": "ALVSLSFFRKLRLIRGETLE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "site_lbl": "Tyr401" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P06213-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P06213-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P06213-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P06213-1.400.400", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P06213-1.407.407", "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": "P06213-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "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": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "iPTMnet", "id": "P06213-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LIEEISGYLKIRRSYALVSL", "down_seq": "FFRKLRLIRGETLEIGNYSF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "site_lbl": "Ser407" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P06213-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P06213-1.400.400", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.401.401", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P06213-1.424.424", "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": "P06213-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Impaired expression and insulin-stimulated phosphorylation of Akt-2 in muscle of obese patients with atypical diabetes.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2004", "authors": "Gosmanov AR, Umpierrez GE, Karabell AH, Cuervo R, Thomason DB", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "15010337", "url": "https://glygen.org/publication/PubMed/15010337" } ] }, { "title": "Agonistic aptamer to the insulin receptor leads to biased signaling and functional selectivity through allosteric modulation.", "journal": "Nucleic acids research", "date": "2015", "authors": "Yunn NO, Koh A, Han S, Lim JH, Park S, Lee J, Kim E, Jang SK, Berggren PO, Ryu SH", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346" } ] } ], "crossref": [ { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15010337", "url": "https://glygen.org/publication/PubMed/15010337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LFFHYNPKLCLSEIHKMEEV", "down_seq": "GTKGRQERNDIALKTNGDQA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "15010337", "url": "https://glygen.org/publication/PubMed/15010337" }, { "database": "PubMed", "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346" } ], "site_lbl": "Ser473" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P06213-1.462.462", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.478.478", "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": "P06213-1.941.941", "start_pos": 941, "end_pos": 941, "uniprot_canonical_ac": "P06213-1", "length": 1382, "uniprot_id": "INSR_HUMAN", "protein_name": "Insulin receptor", "refseq_ac": "NP_000199", "refseq_name": "insulin receptor isoform Long preproprotein", "gene_name": "INSR", "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06213", "url": "https://www.uniprot.org/uniprotkb/P06213" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A fluorescent indicator for tyrosine phosphorylation-based insulin signaling pathways.", "journal": "Analytical chemistry", "date": "1999-09-15", "authors": "Sato M, Ozawa T, Yoshida T, Umezawa Y", "evidence": [ { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" } ], "reference": [ { "type": "PubMed", "id": "10500481", "url": "https://glygen.org/publication/PubMed/10500481" } ] } ], "crossref": [ { "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "10500481", "url": "https://glygen.org/publication/PubMed/10500481", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YSVRIRATSLAGNGSWTEPT", "down_seq": "FYVTDYLDVPSNIAKIIIGP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IntAct", "id": "P06213", "url": "https://www.ebi.ac.uk/intact/interactors/id:P06213*" }, { "database": "iPTMnet", "id": "P06213", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06213" }, { "database": "PubMed", "id": "10500481", "url": "https://glygen.org/publication/PubMed/10500481" } ], "site_lbl": "Tyr941" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "920", "end_pos": "920" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1000", "end_pos": "1000" }, { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "834", "end_pos": "834" }, { "start_pos": "991", "end_pos": "991" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "996", "end_pos": "996" }, { "start_pos": "996", "end_pos": "997" }, { "start_pos": "997", "end_pos": "997" }, { "start_pos": "998", "end_pos": "998" }, { "start_pos": "999", "end_pos": "999" } ] }, { "type": "snv", "site_list": [ { "start_pos": "284", "end_pos": "284" }, { "start_pos": "1001", "end_pos": "1001" }, { "start_pos": "1003", "end_pos": "1003" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "1128", "end_pos": "1128" }, { "start_pos": "1187", "end_pos": "1187" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1356", "end_pos": "1356" }, { "start_pos": "1378", "end_pos": "1378" }, { "start_pos": "1381", "end_pos": "1381" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "784", "end_pos": "784" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "791", "end_pos": "791" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "933", "end_pos": "933" }, { "start_pos": "935", "end_pos": "935" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "955", "end_pos": "955" }, { "start_pos": "994", "end_pos": "994" }, { "start_pos": "995", "end_pos": "995" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1189", "end_pos": "1189" }, { "start_pos": "1190", "end_pos": "1190" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1348", "end_pos": "1348" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1375", "end_pos": "1375" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "992", "end_pos": "992" }, { "start_pos": "999", "end_pos": "999" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P06213-1.922.922", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P06213-1.933.933", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P06213-1.935.935", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P06213-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P06213-1.946.946", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P06213-1.955.955", "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": "Q9BY66-1.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein.", "journal": "Cell", "date": "2007", "authors": "Lee MG, Norman J, Shilatifard A, Shiekhattar R", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "reference": [ { "type": "PubMed", "id": "17320162", "url": "https://glygen.org/publication/PubMed/17320162" } ] } ], "crossref": [ { "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17320162", "url": "https://glygen.org/publication/PubMed/17320162", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NYLHWGEPKTWYGVPSLAAE", "down_seq": "LEEVMKMLTPELFDSQPDLL", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes enzymatic activity; when associated with A-536.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" }, { "database": "PubMed", "id": "17320162", "url": "https://glygen.org/publication/PubMed/17320162" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9BY66-1.536.536", "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": "Q9BY66-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein.", "journal": "Cell", "date": "2007", "authors": "Lee MG, Norman J, Shilatifard A, Shiekhattar R", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "reference": [ { "type": "PubMed", "id": "17320162", "url": "https://glygen.org/publication/PubMed/17320162" } ] } ], "crossref": [ { "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17320162", "url": "https://glygen.org/publication/PubMed/17320162", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LHWGEPKTWYGVPSLAAEHL", "down_seq": "EVMKMLTPELFDSQPDLLHQ", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes enzymatic activity; when associated with A-534.", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" }, { "database": "PubMed", "id": "17320162", "url": "https://glygen.org/publication/PubMed/17320162" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BY66-1.534.534", "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": "Q9BY66-1.1346.1346", "start_pos": 1346, "end_pos": 1346, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSGNNISKVQGLLENGDSVT", "down_seq": "PENMAPGKGSDLELLSSLLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "site_lbl": "Ser1346" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "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": "Q9BY66-1.1510.1510", "start_pos": 1510, "end_pos": 1510, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "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": "Q9BY66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BY66" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q9BY66", "url": "https://www.iedb.org/epitope/Q9BY66", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q9BY66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BY66", "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": "ENMFLTPSTDHSPFLKGNQN", "down_seq": "LQHKDSGSSAACPSLMPLLQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q9BY66", "url": "https://www.iedb.org/epitope/Q9BY66" }, { "database": "iPTMnet", "id": "Q9BY66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BY66" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser1510" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "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": "Q9BY66-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VKDEQSGGGNVSSTLLKQHL", "down_seq": "LEPCTKTTMQLRKNHSSAQF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "site_lbl": "Ser291" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q9BY66-1.307.307", "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": "Q9BY66-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KQHLSLEPCTKTTMQLRKNH", "down_seq": "SAQFIDSYICQVCSRGDEDD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "site_lbl": "Ser307" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9BY66-1.291.291", "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": "Q9BY66-1.748.748", "start_pos": 748, "end_pos": 748, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "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": "Q9BY66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BY66" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q9BY66", "url": "https://www.iedb.org/epitope/Q9BY66", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q9BY66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BY66", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CKCSSSRQYLRYRYTLDELP", "down_seq": "MLHKLKIRAESFDTWANKVR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q9BY66", "url": "https://www.iedb.org/epitope/Q9BY66" }, { "database": "iPTMnet", "id": "Q9BY66", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BY66" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Thr748" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "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": "Q9BY66-1.884.884", "start_pos": 884, "end_pos": 884, "uniprot_canonical_ac": "Q9BY66-1", "length": 1539, "uniprot_id": "KDM5D_HUMAN", "protein_name": "Lysine-specific demethylase 5D", "refseq_ac": "NP_001140177", "refseq_name": "lysine-specific demethylase 5D isoform 1", "gene_name": "KDM5D", "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEQVEAYQAEAREALATLPS", "down_seq": "PGLLRSLLERGQQLGVEVPE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BY66", "url": "https://www.uniprot.org/uniprotkb/Q9BY66" } ], "site_lbl": "Ser884" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1346", "end_pos": "1346" }, { "start_pos": "1510", "end_pos": "1510" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "884", "end_pos": "884" } ] } ], "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": "Q9Y252-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "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": "rs1869778612", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1869778612", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1869778612", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1869778612#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LEWLNTFRRTGNATRSGQNG", "down_seq": "QTWRAVSRTNPNNGEFRFSL", "glycosylation": [ { "glytoucan_ac": "G40834TG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TGNATRSGQNGNQTWRAVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn131", "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": "rs1869778612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1869778612" }, { "id": "rs1869778612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1869778612#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->TQT); n-glyco-sequon-gain (NGN->NGT).", "chr_id": "13", "chr_pos": "26215490", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N131", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9Y252-1.148.148", "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": "Q9Y252-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "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": "rs1483828716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483828716", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1483828716", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483828716#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1483828716", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483828716", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RLRNGIGGAAGIPRANASRT", "down_seq": "FSSHTNQSGGSELRQREGQR", "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TNFSSHTNQSGGSELR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "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": "rs1483828716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483828716" }, { "id": "rs1483828716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483828716#frequency_tab" }, { "id": "rs1483828716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483828716" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFS->YFS).", "chr_id": "13", "chr_pos": "26215122", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N254", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y252-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y252-1.256.256", "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": "Q9Y252-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QNGNQTWRAVSRTNPNNGEF", "down_seq": "FSLEIHVNHENRGFEIHGED", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "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 (4).", "chr_id": "13", "chr_pos": "26215440", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R148", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y252-1.131.131", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y252-1.168.168", "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": "Q9Y252-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776329862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776329862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776329862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776329862", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776329862", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776329862#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs776329862", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776329862", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RFSLEIHVNHENRGFEIHGE", "down_seq": "YTDIPLSDSNRDHTANRQQR", "snv": [ { "evidence": [ { "id": "rs776329862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776329862" }, { "id": "rs776329862", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776329862" }, { "id": "rs776329862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776329862#frequency_tab" }, { "id": "rs776329862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776329862" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYT->NYT).", "chr_id": "13", "chr_pos": "26215380", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D168", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y252-1.148.148", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1292888852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292888852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1292888852", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1292888852#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1292888852", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292888852", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RDHTANRQQRSTSPVARRTR", "down_seq": "QTSVNFNGSSSNIPRTRLAS", "snv": [ { "evidence": [ { "id": "rs1292888852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292888852" }, { "id": "rs1292888852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1292888852#frequency_tab" }, { "id": "rs1292888852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292888852" } ], "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 (SQT->NQT).", "chr_id": "13", "chr_pos": "26215286", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S199", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9Y252-1.206.206", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2137759515", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137759515", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2137759515", "url": "https://www.ensembl.org/id/rs2137759515", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QQRSTSPVARRTRSQTSVNF", "down_seq": "GSSSNIPRTRLASRGQNPAE", "snv": [ { "evidence": [ { "id": "rs2137759515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137759515" }, { "id": "rs2137759515", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2137759515" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "13", "chr_pos": "26215265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N206", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y252-1.199.199", "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": "Q9Y252-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LGRLRNGIGGAAGIPRANAS", "down_seq": "TNFSSHTNQSGGSELRQREG", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "13", "chr_pos": "26215127", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R252", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y252-1.254.254", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y252-1.256.256", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs375737237", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375737237", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375737237", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375737237", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375737237", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375737237#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375737237", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375737237", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1324267963", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324267963", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1324267963", "url": "https://www.ensembl.org/id/rs1324267963", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2137757777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137757777", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2137757777", "url": "https://www.ensembl.org/id/rs2137757777", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RNGIGGAAGIPRANASRTNF", "down_seq": "SHTNQSGGSELRQREGQRFG", "snv": [ { "evidence": [ { "id": "rs375737237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375737237" }, { "id": "rs375737237", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375737237" }, { "id": "rs375737237", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375737237#frequency_tab" }, { "id": "rs375737237", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375737237" } ], "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 (NFS->NFG).", "chr_id": "13", "chr_pos": "26215116", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324267963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324267963" }, { "id": "rs1324267963", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1324267963" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFS->NFI).", "chr_id": "13", "chr_pos": "26215115", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2137757777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137757777" }, { "id": "rs2137757777", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2137757777" } ], "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 (NFS->NFR).", "chr_id": "13", "chr_pos": "26215114", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S256", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9Y252-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y252-1.254.254", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TVRNTNQRLEPIRLRSTSNS", "down_seq": "SRSPIQRQSGTVYHNSQRES", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "26214953", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R310", "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": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9Y252-1.319.319", "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": "Q9Y252-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750100987", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750100987", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750100987", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750100987", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750100987", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750100987", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EPIRLRSTSNSRSRSPIQRQ", "down_seq": "GTVYHNSQRESRPVQQTTRR", "snv": [ { "evidence": [ { "id": "rs750100987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750100987" }, { "id": "rs750100987", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750100987" }, { "id": "rs750100987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750100987" } ], "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 (SGT->NGT).", "chr_id": "13", "chr_pos": "26214926", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S319", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9Y252-1.310.310", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RSVRRRGRTRVFLEQDRERE", "down_seq": "RGTAYTPFSNSRLVSRITVE", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "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": "26214806", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R359", "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": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9Y252-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1187557233", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187557233", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1187557233", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187557233", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1187557233", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1187557233", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TPFSNSRLVSRITVEEGEES", "down_seq": "RSSTAVRRHPTITLDLQVRR", "snv": [ { "evidence": [ { "id": "rs1187557233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187557233" }, { "id": "rs1187557233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187557233" }, { "id": "rs1187557233", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1187557233" } ], "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 (SRS->NRS).", "chr_id": "13", "chr_pos": "26214728", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S385", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9Y252-1.454.454", "start_pos": 454, "end_pos": 454, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IESNSGGFRRTISRLERSGI", "down_seq": "TYVSTITVPLRRISENELVE", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "26214521", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R454", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y252-1.459.459", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.459.459", "start_pos": 459, "end_pos": 459, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1566438970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1566438970", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1566438970", "url": "https://www.ensembl.org/id/rs1566438970", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GGFRRTISRLERSGIRTYVS", "down_seq": "ITVPLRRISENELVEPSSVA", "snv": [ { "evidence": [ { "id": "rs1566438970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1566438970" }, { "id": "rs1566438970", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1566438970" } ], "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 (TIT->NIT).", "chr_id": "13", "chr_pos": "26214506", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T459", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y252-1.454.454", "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": "Q9Y252-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs375598251", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375598251", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375598251", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375598251", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375598251", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375598251#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375598251", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375598251", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NGQHLPDMHSELSNLGTDNN", "down_seq": "SQHREGSSQDRQAQGDSTEM", "snv": [ { "evidence": [ { "id": "rs375598251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375598251" }, { "id": "rs375598251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375598251" }, { "id": "rs375598251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375598251#frequency_tab" }, { "id": "rs375598251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375598251" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNR->NNS).", "chr_id": "13", "chr_pos": "26214295", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R529", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9Y252-1.587.587", "start_pos": 587, "end_pos": 587, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGRQLRNPNNLVETGTLPIL", "down_seq": "LAHFFLLNESDDDDRIRGLT", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "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": "13", "chr_pos": "26214123", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R587", "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": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9Y252-1.624.624", "start_pos": 624, "end_pos": 624, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1283665789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283665789", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1283665789", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1283665789#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RGLTKEQIDNLSTRHYEHNS", "down_seq": "DSELGKICSVCISDYVTGNK", "snv": [ { "evidence": [ { "id": "rs1283665789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283665789" }, { "id": "rs1283665789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1283665789#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "13", "chr_pos": "26214011", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I624", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9Y252-1.630.630", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.630.630", "start_pos": 630, "end_pos": 630, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781596701", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781596701", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781596701", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781596701", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781596701", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781596701", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QIDNLSTRHYEHNSIDSELG", "down_seq": "ICSVCISDYVTGNKLRQLPC", "snv": [ { "evidence": [ { "id": "rs781596701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781596701" }, { "id": "rs781596701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781596701" }, { "id": "rs781596701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781596701" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIC->NIC).", "chr_id": "13", "chr_pos": "26213992", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K630", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9Y252-1.624.624", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y252-1.656.656", "start_pos": 656, "end_pos": 656, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750405755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750405755", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750405755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750405755", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750405755", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750405755", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ISDYVTGNKLRQLPCMHEFH", "down_seq": "HCIDRWLSENCTCPICRQPV", "snv": [ { "evidence": [ { "id": "rs750405755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750405755" }, { "id": "rs750405755", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750405755" }, { "id": "rs750405755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750405755" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHC->NHC).", "chr_id": "13", "chr_pos": "26213915", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I656", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9Y252-1.682.682", "start_pos": 682, "end_pos": 682, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y252", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "WLSENCTCPICRQPVLGSNI", "down_seq": "NNG", "snv": [ { "evidence": [ { "id": "Q9Y252", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y252" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIS).", "chr_id": "13", "chr_pos": "26213838", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A682", "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": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9Y252-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9Y252-1", "length": 685, "uniprot_id": "RNF6_HUMAN", "protein_name": "E3 ubiquitin-protein ligase RNF6", "refseq_ac": "NP_005968", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "gene_name": "RNF6", "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y252", "url": "https://www.uniprot.org/uniprotkb/Q9Y252" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752966248", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752966248", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752966248", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752966248", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752966248", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752966248", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ELQQRLDGVKEQLASQPDLR", "down_seq": "GTNYRDSEVPRESSHEDSLL", "snv": [ { "evidence": [ { "id": "rs752966248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752966248" }, { "id": "rs752966248", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752966248" }, { "id": "rs752966248", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752966248" } ], "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": "13", "chr_pos": "26218529", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D91", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "254", "end_pos": "254" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "682", "end_pos": "682" }, { "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": "Q9ULZ2-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "Q9ULZ2-1", "length": 295, "uniprot_id": "STAP1_HUMAN", "protein_name": "Signal-transducing adaptor protein 1", "refseq_ac": "NP_001304698", "refseq_name": "signal-transducing adaptor protein 1", "gene_name": "STAP1", "gene_names_uniprotkb": "STAP1; BRDG1", "gene_names_refseq": "BRDG1; STAP-1; STAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q9ULZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MMAKKPPKPAP", "down_seq": "RIFQERLKITALPLYFEGFL", "snv": [ { "evidence": [ { "id": "Q9ULZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULZ2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67558843", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R12", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "12", "end_pos": "12" }, { "start_pos": "40", "end_pos": "40" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "168", "end_pos": "168" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULZ2-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "Q9ULZ2-1", "length": 295, "uniprot_id": "STAP1_HUMAN", "protein_name": "Signal-transducing adaptor protein 1", "refseq_ac": "NP_001304698", "refseq_name": "signal-transducing adaptor protein 1", "gene_name": "STAP1", "gene_names_uniprotkb": "STAP1; BRDG1", "gene_names_refseq": "BRDG1; STAP-1; STAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q9ULZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KITALPLYFEGFLLIKRSGY", "down_seq": "EYEHYWTELRGTTLFFYTDK", "snv": [ { "evidence": [ { "id": "Q9ULZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULZ2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67558927", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R40", "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": "12", "end_pos": "12" }, { "start_pos": "40", "end_pos": "40" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "168", "end_pos": "168" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULZ2-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q9ULZ2-1", "length": 295, "uniprot_id": "STAP1_HUMAN", "protein_name": "Signal-transducing adaptor protein 1", "refseq_ac": "NP_001304698", "refseq_name": "signal-transducing adaptor protein 1", "gene_name": "STAP1", "gene_names_uniprotkb": "STAP1; BRDG1", "gene_names_refseq": "BRDG1; STAP-1; STAP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q9ULZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q9ULZ2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RRIETEQSTSVEKEKEPTED", "down_seq": "VDVLNPMPACFYTVSRKEAT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9ULZ2", "url": "https://www.uniprot.org/uniprotkb/Q9ULZ2" } ], "site_lbl": "Tyr168" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "12", "end_pos": "12" }, { "start_pos": "40", "end_pos": "40" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "168", "end_pos": "168" } ] } ], "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": "Q9HBL0-3.113.113", "start_pos": 113, "end_pos": 113, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "rs966830830", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966830830", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs966830830", "url": "https://www.ncbi.nlm.nih.gov/snp/rs966830830#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs966830830", "url": "http://gnomad.broadinstitute.org/awesome?query=rs966830830", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1575009462", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575009462", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1575009462", "url": "https://www.ensembl.org/id/rs1575009462", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1575009462", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1575009462", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GASRGGNTRKSLEDNGSTRV", "down_seq": "PSVQPHLQPIRNMSVSRTME", "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": "Thr113", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs966830830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966830830" }, { "id": "rs966830830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs966830830#frequency_tab" }, { "id": "rs966830830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs966830830" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "217900496", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs966830830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966830830" }, { "id": "rs966830830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs966830830#frequency_tab" }, { "id": "rs966830830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs966830830" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "2", "chr_pos": "217900496", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1575009462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575009462" }, { "id": "rs1575009462", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575009462" }, { "id": "rs1575009462", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1575009462" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "2", "chr_pos": "217900497", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T113", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9HBL0-3.127.127", "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": 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": "Q9HBL0-3.1156.1156", "start_pos": 1156, "end_pos": 1156, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Comprehensive analysis of phosphorylation sites in Tensin1 reveals regulation by p38MAPK.", "journal": "Molecular & cellular proteomics : MCP", "date": "2010", "authors": "Hall EH, Balsbaugh JL, Rose KL, Shabanowitz J, Hunt DF, Brautigan DL", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0#ptm_processing" }, { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TAVAGPRAQDSEPKSFSAPA", "down_seq": "QAYGHEIPLRNGTLGGSFVS", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1156", "evidence": [ { "id": "Q9HBL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0#ptm_processing" }, { "id": "20798394", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20798394" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9HBL0-3.1150.1150", "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1243.1243", "start_pos": 1243, "end_pos": 1243, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "rs1942312957", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942312957", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1942312957", "url": "https://www.ensembl.org/id/rs1942312957", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLGQPSPSAQRNYQSSSPLP", "down_seq": "VGSSYSSPDYSLQHFSSSPE", "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": "Thr1243", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1942312957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942312957" }, { "id": "rs1942312957", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1942312957" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "2", "chr_pos": "217818605", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1243", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9HBL0-3.1228.1228", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9HBL0-3.1235.1235", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9HBL0-3.1252.1252", "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": "Q9HBL0-3.1271.1271", "start_pos": 1271, "end_pos": 1271, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" }, { "database": "O-GlcNAc Atlas", "id": "Q9HBL0", "url": "https://oglcnac.org/atlas/detail/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Comprehensive analysis of phosphorylation sites in Tensin1 reveals regulation by p38MAPK.", "journal": "Molecular & cellular proteomics : MCP", "date": "2010", "authors": "Hall EH, Balsbaugh JL, Rose KL, Shabanowitz J, Hunt DF, Brautigan DL", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0#ptm_processing" }, { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0", "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": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1942298449", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942298449", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1942298449", "url": "https://www.ensembl.org/id/rs1942298449", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs775049558", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775049558", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775049558", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775049558", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775049558", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775049558#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775049558", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775049558", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PDYSLQHFSSSPESQARAQF", "down_seq": "VAGVHTVPGSPQARHRTVGT", "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": "Ser1271", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q9HBL0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" }, { "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": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1271", "evidence": [ { "id": "Q9HBL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0#ptm_processing" }, { "id": "20798394", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20798394" } ] } ], "snv": [ { "evidence": [ { "id": "rs1942298449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942298449" }, { "id": "rs1942298449", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1942298449" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "2", "chr_pos": "217818521", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775049558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775049558" }, { "id": "rs775049558", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775049558" }, { "id": "rs775049558", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775049558#frequency_tab" }, { "id": "rs775049558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775049558" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "2", "chr_pos": "217818520", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1271", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9HBL0-3.1252.1252", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1281.1281", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9HBL0-3.1286.1286", "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": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1441.1441", "start_pos": 1441, "end_pos": 1441, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "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": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" }, { "database": "O-GlcNAc Atlas", "id": "Q9HBL0", "url": "https://oglcnac.org/atlas/detail/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0", "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": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "https://oglcnac.org/atlas/detail/Q9HBL0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9HBL0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBL0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs752456483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752456483", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752456483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752456483", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752456483", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752456483", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDRHVAYGGYSTPEDRRPTL", "down_seq": "RQSSASGYQAPSTPSFPVSP", "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": "Ser1441", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q9HBL0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBL0" }, { "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": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9HBL0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9HBL0" } ] } ], "snv": [ { "evidence": [ { "id": "Q9HBL0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBL0" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "2", "chr_pos": "217817698", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1441", "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": "rs752456483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752456483" }, { "id": "rs752456483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752456483" }, { "id": "rs752456483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752456483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "2", "chr_pos": "217818010", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1441", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q9HBL0-3.1454.1454", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1454.1454", "start_pos": 1454, "end_pos": 1454, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "rs772889773", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772889773", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772889773", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772889773", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772889773", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772889773#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772889773", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772889773", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EDRRPTLSRQSSASGYQAPS", "down_seq": "PSFPVSPAYYPGLSSPATSP", "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": "Thr1454", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs772889773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772889773" }, { "id": "rs772889773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772889773" }, { "id": "rs772889773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772889773#frequency_tab" }, { "id": "rs772889773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772889773" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "2", "chr_pos": "217817971", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1454", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9HBL0-3.1441.1441", "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": "Q9HBL0-3.1487.1487", "start_pos": 1487, "end_pos": 1487, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "rs139365440", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139365440", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs139365440", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139365440", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LSSPATSPSPDSAAFRQGSP", "down_seq": "PALPEKRRMSVGDRAGSLPN", "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": "Thr1487", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs139365440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139365440" }, { "id": "rs139365440", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139365440" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "217817872", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1487", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9HBL0-3.1485.1485", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1497.1497", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.1504.1504", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1735.1735", "start_pos": 1735, "end_pos": 1735, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "rs764881368", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764881368", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764881368", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764881368", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764881368", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764881368#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764881368", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764881368", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs758979599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758979599", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758979599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758979599", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758979599", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758979599#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758979599", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758979599", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs758979599", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758979599", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLTGPQAISKATSETLAADP", "down_seq": "PAATIVHFKVSAQGITLTDN", "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": "Thr1735", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs764881368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764881368" }, { "id": "rs764881368", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764881368" }, { "id": "rs764881368", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764881368#frequency_tab" }, { "id": "rs764881368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764881368" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "2", "chr_pos": "217809893", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758979599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758979599" }, { "id": "rs758979599", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758979599" }, { "id": "rs758979599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758979599#frequency_tab" }, { "id": "rs758979599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758979599" }, { "id": "rs758979599", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758979599" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "2", "chr_pos": "217809892", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1735", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9HBL0-3.1724.1724", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1592.1592", "start_pos": 1592, "end_pos": 1592, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tensin1 requires protein phosphatase-1alpha in addition to RhoGAP DLC-1 to control cell polarization, migration, and invasion.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Hall EH, Daugherty AE, Choi CK, Horwitz AF, Brautigan DL", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "19826001", "url": "https://glygen.org/publication/PubMed/19826001" } ] }, { "title": "Tensin1 positively regulates RhoA activity through its interaction with DLC1.", "journal": "Biochimica et biophysica acta", "date": "2015", "authors": "Shih YP, Sun P, Wang A, Lo SH", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19826001", "url": "https://glygen.org/publication/PubMed/19826001", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ISREQAIALLKDQEPGAFII", "down_seq": "DSHSFRGAYGLAMKVSSPPP", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces interaction with DLC1 but does not affect interaction with PPP1CA. Impaired cell polarization. Reduced phosphorylation of MYL12B.", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "19826001", "url": "https://glygen.org/publication/PubMed/19826001" }, { "database": "PubMed", "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9HBL0-3.1606.1606", "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": "Q9HBL0-3.369.370", "start_pos": 369, "end_pos": 370, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tensin1 positively regulates RhoA activity through its interaction with DLC1.", "journal": "Biochimica et biophysica acta", "date": "2015", "authors": "Shih YP, Sun P, Wang A, Lo SH", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "GD", "start_aa": "G", "up_seq": "IPGDSQTSVCITIEPGLLLK", "down_seq": "ILLKCYHKKFRSPARDVIFR", "mutagenesis": [ { "sequence_org": "GD", "sequence_mut": "AA", "comment": "Reduces interaction with DLC1.", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9HBL0-3.377.378", "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": "Q9HBL0-3.377.378", "start_pos": 377, "end_pos": 378, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tensin1 positively regulates RhoA activity through its interaction with DLC1.", "journal": "Biochimica et biophysica acta", "date": "2015", "authors": "Shih YP, Sun P, Wang A, Lo SH", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "HK", "start_aa": "H", "up_seq": "VCITIEPGLLLKGDILLKCY", "down_seq": "KFRSPARDVIFRVQFHTCAI", "mutagenesis": [ { "sequence_org": "HK", "sequence_mut": "AA", "comment": "No effect on interaction with DLC1.", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "26427649", "url": "https://glygen.org/publication/PubMed/26427649" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9HBL0-3.369.370", "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": "Q9HBL0-3.427.427", "start_pos": 427, "end_pos": 427, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tensin1 requires protein phosphatase-1alpha in addition to RhoGAP DLC-1 to control cell polarization, migration, and invasion.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Hall EH, Daugherty AE, Choi CK, Horwitz AF, Brautigan DL", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "19826001", "url": "https://glygen.org/publication/PubMed/19826001" } ] }, { "title": "Comprehensive analysis of phosphorylation sites in Tensin1 reveals regulation by p38MAPK.", "journal": "Molecular & cellular proteomics : MCP", "date": "2010", "authors": "Hall EH, Balsbaugh JL, Rose KL, Shabanowitz J, Hunt DF, Brautigan DL", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0#ptm_processing" }, { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19826001", "url": "https://glygen.org/publication/PubMed/19826001", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KEDLDDAFKDDRFPEYGKVE", "down_seq": "VFSYGPEKIQGMEHLENGPS", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with PPP1CA. Reduces interaction with DLC1. Increases phosphorylation of some Ser/Thr residues. Reduced rate of cell spreading and impaired cell polarization. Reduced phosphorylation of MYL12B.", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "19826001", "url": "https://glygen.org/publication/PubMed/19826001" }, { "database": "PubMed", "id": "20798394", "url": "https://glygen.org/publication/PubMed/20798394" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q9HBL0-3.446.446", "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": "Q9HBL0-3.1150.1150", "start_pos": 1150, "end_pos": 1150, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1389947940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389947940", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1389947940", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389947940", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VESVARTAVAGPRAQDSEPK", "down_seq": "FSAPATQAYGHEIPLRNGTL", "snv": [ { "evidence": [ { "id": "rs1389947940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389947940" }, { "id": "rs1389947940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389947940" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "2", "chr_pos": "217821863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1150", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9HBL0-3.1156.1156", "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": "Q9HBL0-3.1235.1235", "start_pos": 1235, "end_pos": 1235, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1214846935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214846935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1214846935", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214846935#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1214846935", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214846935", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LESGFRSGSLGQPSPSAQRN", "down_seq": "QSSSPLPTVGSSYSSPDYSL", "snv": [ { "evidence": [ { "id": "rs1214846935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214846935" }, { "id": "rs1214846935", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214846935#frequency_tab" }, { "id": "rs1214846935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214846935" } ], "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 (YQS->NQS).", "chr_id": "2", "chr_pos": "217818629", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1235", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9HBL0-3.1228.1228", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9HBL0-3.1243.1243", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.1252.1252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1252.1252", "start_pos": 1252, "end_pos": 1252, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs184451758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184451758", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs184451758", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184451758", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs184451758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184451758", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs184451758", "url": "https://www.ncbi.nlm.nih.gov/snp/rs184451758#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs184451758", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184451758", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QRNYQSSSPLPTVGSSYSSP", "down_seq": "YSLQHFSSSPESQARAQFSV", "snv": [ { "evidence": [ { "id": "rs184451758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184451758" }, { "id": "rs184451758", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184451758" }, { "id": "rs184451758", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184451758" }, { "id": "rs184451758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs184451758#frequency_tab" }, { "id": "rs184451758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184451758" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "2", "chr_pos": "217818578", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00117739", "site_lbl": "D1252", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.1235.1235", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9HBL0-3.1243.1243", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9HBL0-3.1271.1271", "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": "Q9HBL0-3.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750480116", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750480116", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750480116", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750480116", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750480116", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750480116#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750480116", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750480116", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NGSTRVTPSVQPHLQPIRNM", "down_seq": "VSRTMEDSCELDLVYVTERI", "snv": [ { "evidence": [ { "id": "rs750480116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750480116" }, { "id": "rs750480116", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750480116" }, { "id": "rs750480116", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750480116#frequency_tab" }, { "id": "rs750480116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750480116" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "2", "chr_pos": "217897961", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S127", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9HBL0-3.113.113", "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": "Q9HBL0-3.1286.1286", "start_pos": 1286, "end_pos": 1286, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1942285945", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942285945", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1942285945", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1942285945#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "ARAQFSVAGVHTVPGSPQAR", "down_seq": "RTVGTNTPPSPGFGWRAINP", "snv": [ { "evidence": [ { "id": "rs1942285945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942285945" }, { "id": "rs1942285945", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1942285945#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HRT->NRT).", "chr_id": "2", "chr_pos": "217818476", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1286", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9HBL0-3.1271.1271", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9HBL0-3.1281.1281", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9HBL0-3.1293.1293", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9HBL0-3.1294.1294", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1296.1296", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9HBL0-3.1306.1306", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1294.1294", "start_pos": 1294, "end_pos": 1294, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs147629696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147629696", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147629696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147629696", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147629696", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147629696#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147629696", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147629696", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs147629696", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147629696", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GVHTVPGSPQARHRTVGTNT", "down_seq": "PSPGFGWRAINPSMAAPSSP", "snv": [ { "evidence": [ { "id": "rs147629696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147629696" }, { "id": "rs147629696", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147629696" }, { "id": "rs147629696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147629696#frequency_tab" }, { "id": "rs147629696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147629696" }, { "id": "rs147629696", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147629696" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "2", "chr_pos": "217818452", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1294", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9HBL0-3.1281.1281", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9HBL0-3.1286.1286", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9HBL0-3.1293.1293", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9HBL0-3.1296.1296", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9HBL0-3.1306.1306", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1306.1306", "start_pos": 1306, "end_pos": 1306, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1942268847", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942268847", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1942268847", "url": "https://www.ensembl.org/id/rs1942268847", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1942268847", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1942268847", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs34291329", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34291329", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs34291329", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34291329", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs34291329", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34291329", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs34291329", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34291329#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs34291329", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34291329", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs34291329", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34291329", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "HRTVGTNTPPSPGFGWRAIN", "down_seq": "SMAAPSSPSLSHHQMMGPPG", "snv": [ { "evidence": [ { "id": "rs1942268847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942268847" }, { "id": "rs1942268847", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1942268847" }, { "id": "rs1942268847", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1942268847" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "2", "chr_pos": "217818415", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1306", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs34291329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34291329" }, { "id": "rs34291329", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34291329" }, { "id": "rs34291329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34291329" }, { "id": "rs34291329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34291329#frequency_tab" }, { "id": "rs34291329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34291329" }, { "id": "rs34291329", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34291329" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "2", "chr_pos": "217818416", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1306", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9HBL0-3.1286.1286", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9HBL0-3.1293.1293", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9HBL0-3.1294.1294", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1296.1296", "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": "Q9HBL0-3.1388.1388", "start_pos": 1388, "end_pos": 1388, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1047194283", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1047194283", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1047194283", "url": "https://www.ensembl.org/id/rs1047194283", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ATTPGSPSLGRHPGAHQGNL", "down_seq": "SGLHSNAIASPGSPSLGRHL", "snv": [ { "evidence": [ { "id": "rs1047194283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1047194283" }, { "id": "rs1047194283", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1047194283" } ], "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": "2", "chr_pos": "217818170", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1388", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9HBL0-3.1370.1370", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9HBL0-3.1373.1373", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9HBL0-3.1396.1396", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1398.1398", "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": "Q9HBL0-3.1396.1396", "start_pos": 1396, "end_pos": 1396, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766905890", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766905890", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766905890", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766905890", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766905890", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766905890#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766905890", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766905890", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LGRHPGAHQGNLASGLHSNA", "down_seq": "ASPGSPSLGRHLGGSGSVVP", "snv": [ { "evidence": [ { "id": "rs766905890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766905890" }, { "id": "rs766905890", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766905890" }, { "id": "rs766905890", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766905890#frequency_tab" }, { "id": "rs766905890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766905890" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "2", "chr_pos": "217818145", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1396", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9HBL0-3.1388.1388", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9HBL0-3.1398.1398", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.1413.1413", "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": "Q9HBL0-3.1514.1514", "start_pos": 1514, "end_pos": 1514, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766339399", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766339399", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766339399", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766339399", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766339399", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766339399", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs776963230", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776963230", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776963230", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776963230", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776963230", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776963230", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RRMSVGDRAGSLPNYATING", "down_seq": "VSSPVASGMSSPSGGSTVSF", "snv": [ { "evidence": [ { "id": "rs766339399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766339399" }, { "id": "rs766339399", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766339399" }, { "id": "rs766339399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766339399" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "2", "chr_pos": "217817790", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776963230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776963230" }, { "id": "rs776963230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776963230" }, { "id": "rs776963230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776963230" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGK->NGT).", "chr_id": "2", "chr_pos": "217817791", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1514", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.1497.1497", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1504.1504", "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": "Q9HBL0-3.1540.1540", "start_pos": 1540, "end_pos": 1540, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763402455", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763402455", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763402455", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763402455", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763402455", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763402455#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763402455", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763402455", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763402455", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763402455", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ASGMSSPSGGSTVSFSHTLP", "down_seq": "FSKYSMPDNSPETRAKVKFV", "snv": [ { "evidence": [ { "id": "rs763402455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763402455" }, { "id": "rs763402455", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763402455" }, { "id": "rs763402455", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763402455#frequency_tab" }, { "id": "rs763402455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763402455" }, { "id": "rs763402455", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763402455" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "2", "chr_pos": "217817714", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1540", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1550.1550", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9HBL0-3.1551.1551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1551.1551", "start_pos": 1551, "end_pos": 1551, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777573962", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777573962", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777573962", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777573962", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TVSFSHTLPDFSKYSMPDNS", "down_seq": "ETRAKVKFVQDTSKYWYKPE", "snv": [ { "evidence": [ { "id": "rs777573962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777573962" }, { "id": "rs777573962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777573962" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "2", "chr_pos": "217814990", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1551", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9HBL0-3.1540.1540", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9HBL0-3.1550.1550", "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": "Q9HBL0-3.1606.1606", "start_pos": 1606, "end_pos": 1606, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs868625668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868625668", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868625668", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868625668#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PGAFIIRDSHSFRGAYGLAM", "down_seq": "VSSPPPTIMQQNKKGDMTHE", "snv": [ { "evidence": [ { "id": "rs868625668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868625668" }, { "id": "rs868625668", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868625668#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "2", "chr_pos": "217813728", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1606", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9HBL0-3.1592.1592", "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": "Q9HBL0-3.1649.1649", "start_pos": 1649, "end_pos": 1649, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1474148443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474148443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1474148443", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474148443#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1474148443", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474148443", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RHFLIETGPRGVKLKGCPNE", "down_seq": "NFGSLSALVYQHSIIPLALP", "snv": [ { "evidence": [ { "id": "rs1474148443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474148443" }, { "id": "rs1474148443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474148443#frequency_tab" }, { "id": "rs1474148443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474148443" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "2", "chr_pos": "217813224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1649", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": "Q9HBL0-3.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs377270295", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377270295", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377270295", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377270295", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377270295", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377270295#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377270295", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377270295", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIIAVSFPSTANEENFRSNL", "down_seq": "EVAQMLKSKHGGNYLLFNLS", "snv": [ { "evidence": [ { "id": "rs377270295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377270295" }, { "id": "rs377270295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377270295" }, { "id": "rs377270295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377270295#frequency_tab" }, { "id": "rs377270295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377270295" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLC).", "chr_id": "2", "chr_pos": "217897845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377270295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377270295" }, { "id": "rs377270295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377270295" }, { "id": "rs377270295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377270295#frequency_tab" }, { "id": "rs377270295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377270295" } ], "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": "2", "chr_pos": "217897845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R166", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": 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": "Q9HBL0-3.1724.1724", "start_pos": 1724, "end_pos": 1724, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1334007478", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334007478", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1334007478", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334007478#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1334007478", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334007478", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NVLFVNSVDMESLTGPQAIS", "down_seq": "ATSETLAADPTPAATIVHFK", "snv": [ { "evidence": [ { "id": "rs1334007478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334007478" }, { "id": "rs1334007478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334007478#frequency_tab" }, { "id": "rs1334007478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334007478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "2", "chr_pos": "217809924", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1724", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9HBL0-3.1735.1735", "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": "Q9HBL0-3.1803.1803", "start_pos": 1803, "end_pos": 1803, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776099853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776099853", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776099853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776099853", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776099853", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776099853", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MKTEGGAPAKLFGFVARKQG", "down_seq": "TTDNACHLFAELDPNQPASA", "snv": [ { "evidence": [ { "id": "rs776099853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776099853" }, { "id": "rs776099853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776099853" }, { "id": "rs776099853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776099853" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "2", "chr_pos": "217804571", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1803", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.1820.1820", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1820.1820", "start_pos": 1820, "end_pos": 1820, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1938048678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1938048678", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1938048678", "url": "https://www.ensembl.org/id/rs1938048678", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KQGSTTDNACHLFAELDPNQ", "down_seq": "ASAIVNFVSKVMLNAGQKR", "snv": [ { "evidence": [ { "id": "rs1938048678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1938048678" }, { "id": "rs1938048678", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1938048678" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "2", "chr_pos": "217804521", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1820", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.1803.1803", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9HBL0-3.1836.1836", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.1836.1836", "start_pos": 1836, "end_pos": 1836, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs143428830", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143428830", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143428830", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143428830", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs143428830", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143428830", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs143428830", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143428830#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143428830", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143428830", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs143428830", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143428830", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DPNQPASAIVNFVSKVMLNA", "down_seq": "QKR", "snv": [ { "evidence": [ { "id": "rs143428830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143428830" }, { "id": "rs143428830", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143428830" }, { "id": "rs143428830", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143428830" }, { "id": "rs143428830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143428830#frequency_tab" }, { "id": "rs143428830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143428830" }, { "id": "rs143428830", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143428830" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "2", "chr_pos": "217804473", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1836", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9HBL0-3.1820.1820", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HBL0-3.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778492034", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778492034", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778492034", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778492034", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778492034", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778492034#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778492034", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778492034", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VVLHNKGNRGRIGVVIAAYM", "down_seq": "YSNISASADQALDRFAMKRF", "snv": [ { "evidence": [ { "id": "rs778492034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778492034" }, { "id": "rs778492034", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778492034" }, { "id": "rs778492034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778492034#frequency_tab" }, { "id": "rs778492034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778492034" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HYS->NYS).", "chr_id": "2", "chr_pos": "217892970", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H254", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": "Q9HBL0-3.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1293649446", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293649446", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1293649446", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293649446#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1293649446", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293649446", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1293649446", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1293649446", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RRYVHYFSGLLSGSIKMNNK", "down_seq": "LFLHHVIMHGIPNFESKGGC", "snv": [ { "evidence": [ { "id": "rs1293649446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293649446" }, { "id": "rs1293649446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293649446#frequency_tab" }, { "id": "rs1293649446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293649446" }, { "id": "rs1293649446", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1293649446" } ], "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": "217886591", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P308", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": "Q9HBL0-3.446.446", "start_pos": 446, "end_pos": 446, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1950626889", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1950626889", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1950626889", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1950626889#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EFVFSYGPEKIQGMEHLENG", "down_seq": "SVSVDYNTSDPLIRWDSYDN", "snv": [ { "evidence": [ { "id": "rs1950626889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1950626889" }, { "id": "rs1950626889", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1950626889#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "2", "chr_pos": "217880991", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P446", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9HBL0-3.427.427", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.463.463", "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": "Q9HBL0-3.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1429054288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429054288", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1429054288", "url": "https://www.ensembl.org/id/rs1429054288", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HTQGPLDGSLYAKVKKKDSL", "down_seq": "GSTGAVNATRPTLSATPNHV", "snv": [ { "evidence": [ { "id": "rs1429054288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429054288" }, { "id": "rs1429054288", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1429054288" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HGS->NGS).", "chr_id": "2", "chr_pos": "217849016", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H501", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9HBL0-3.489.489", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9HBL0-3.503.503", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9HBL0-3.504.504", "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": "Q9HBL0-3.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769108465", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769108465", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769108465", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769108465", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769108465", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769108465#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769108465", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769108465", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VEHTLSVSSDSGNSTASTKT", "down_seq": "KTDEPVPGASSATAALSPQE", "snv": [ { "evidence": [ { "id": "rs769108465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769108465" }, { "id": "rs769108465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769108465" }, { "id": "rs769108465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769108465#frequency_tab" }, { "id": "rs769108465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769108465" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "2", "chr_pos": "217848896", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D541", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.558.558", "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": "Q9HBL0-3.615.615", "start_pos": 615, "end_pos": 615, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HBL0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBL0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GSAVPSSGRHVVPAQVHVNG", "down_seq": "ALASERETDILDDELPNQDG", "snv": [ { "evidence": [ { "id": "Q9HBL0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBL0" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "2", "chr_pos": "217848299", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G615", "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": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": "Q9HBL0-3.775.775", "start_pos": 775, "end_pos": 775, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766517070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766517070", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766517070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766517070", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766517070", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766517070#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766517070", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766517070", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "PPAPVRGGSSREAVQRGLNS", "down_seq": "QQQQQQQQQPRPPPRQQERA", "snv": [ { "evidence": [ { "id": "rs766517070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766517070" }, { "id": "rs766517070", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766517070" }, { "id": "rs766517070", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766517070#frequency_tab" }, { "id": "rs766517070", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766517070" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSW->NSC).", "chr_id": "2", "chr_pos": "217848192", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W775", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": "Q9HBL0-3.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs552397923", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552397923", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs552397923", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552397923#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs552397923", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552397923", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AAPCVPPSNHELVPITTENA", "down_seq": "KNVVDKGEGASRGGNTRKSL", "snv": [ { "evidence": [ { "id": "rs552397923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552397923" }, { "id": "rs552397923", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552397923#frequency_tab" }, { "id": "rs552397923", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552397923" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "2", "chr_pos": "217907230", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P84", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "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": "Q9HBL0-3.1024.1024", "start_pos": 1024, "end_pos": 1024, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VQAREKQPAEPPAPLRRRAA", "down_seq": "DGQYENQSPEATSPRSPGVR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1024" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9HBL0-3.1028.1028", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9HBL0-3.1032.1032", "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": "Q9HBL0-3.1028.1028", "start_pos": 1028, "end_pos": 1028, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "EKQPAEPPAPLRRRAASDGQ", "down_seq": "ENQSPEATSPRSPGVRSPVQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Tyr1028" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9HBL0-3.1024.1024", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9HBL0-3.1032.1032", "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": "Q9HBL0-3.1032.1032", "start_pos": 1032, "end_pos": 1032, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AEPPAPLRRRAASDGQYENQ", "down_seq": "PEATSPRSPGVRSPVQCVSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1032" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9HBL0-3.1024.1024", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9HBL0-3.1028.1028", "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": "Q9HBL0-3.1088.1088", "start_pos": 1088, "end_pos": 1088, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EPHLHSYKEAFEEMEGTSPS", "down_seq": "PPPSGVRSPPGLAKTPLSAL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1088" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9HBL0-3.1092.1092", "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": "Q9HBL0-3.1092.1092", "start_pos": 1092, "end_pos": 1092, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HSYKEAFEEMEGTSPSSPPP", "down_seq": "GVRSPPGLAKTPLSALGLKP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1092" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9HBL0-3.1088.1088", "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": "Q9HBL0-3.1228.1228", "start_pos": 1228, "end_pos": 1228, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RTPTQPLLESGFRSGSLGQP", "down_seq": "PSAQRNYQSSSPLPTVGSSY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1228" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9HBL0-3.1235.1235", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9HBL0-3.1243.1243", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1281.1281", "start_pos": 1281, "end_pos": 1281, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPESQARAQFSVAGVHTVPG", "down_seq": "PQARHRTVGTNTPPSPGFGW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1281" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1271.1271", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9HBL0-3.1286.1286", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9HBL0-3.1293.1293", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9HBL0-3.1294.1294", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9HBL0-3.1296.1296", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1293.1293", "start_pos": 1293, "end_pos": 1293, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AGVHTVPGSPQARHRTVGTN", "down_seq": "PPSPGFGWRAINPSMAAPSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Thr1293" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9HBL0-3.1281.1281", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9HBL0-3.1286.1286", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9HBL0-3.1294.1294", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9HBL0-3.1296.1296", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9HBL0-3.1306.1306", "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": "Q9HBL0-3.1296.1296", "start_pos": 1296, "end_pos": 1296, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] }, { "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HTVPGSPQARHRTVGTNTPP", "down_seq": "PGFGWRAINPSMAAPSSPSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1296" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9HBL0-3.1281.1281", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1286.1286", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9HBL0-3.1293.1293", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9HBL0-3.1294.1294", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1306.1306", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1370.1370", "start_pos": 1370, "end_pos": 1370, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LCRHPAGVYQVSGLHNKVAT", "down_seq": "PGSPSLGRHPGAHQGNLASG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Thr1370" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9HBL0-3.1373.1373", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9HBL0-3.1388.1388", "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": "Q9HBL0-3.1373.1373", "start_pos": 1373, "end_pos": 1373, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HPAGVYQVSGLHNKVATTPG", "down_seq": "PSLGRHPGAHQGNLASGLHS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1373" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9HBL0-3.1370.1370", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9HBL0-3.1388.1388", "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": "Q9HBL0-3.1398.1398", "start_pos": 1398, "end_pos": 1398, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RHPGAHQGNLASGLHSNAIA", "down_seq": "PGSPSLGRHLGGSGSVVPGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1398" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1388.1388", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9HBL0-3.1396.1396", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9HBL0-3.1413.1413", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9HBL0-3.1418.1418", "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": "Q9HBL0-3.1413.1413", "start_pos": 1413, "end_pos": 1413, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SNAIASPGSPSLGRHLGGSG", "down_seq": "VVPGSPCLDRHVAYGGYSTP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1413" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.1396.1396", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9HBL0-3.1398.1398", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9HBL0-3.1418.1418", "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": "Q9HBL0-3.1418.1418", "start_pos": 1418, "end_pos": 1418, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPGSPSLGRHLGGSGSVVPG", "down_seq": "PCLDRHVAYGGYSTPEDRRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1418" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9HBL0-3.1398.1398", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9HBL0-3.1413.1413", "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": "Q9HBL0-3.1485.1485", "start_pos": 1485, "end_pos": 1485, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PGLSSPATSPSPDSAAFRQG", "down_seq": "PTPALPEKRRMSVGDRAGSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1485" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9HBL0-3.1487.1487", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9HBL0-3.1497.1497", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9HBL0-3.1504.1504", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HBL0-3.1497.1497", "start_pos": 1497, "end_pos": 1497, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DSAAFRQGSPTPALPEKRRM", "down_seq": "VGDRAGSLPNYATINGKVSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1497" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9HBL0-3.1485.1485", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1487.1487", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9HBL0-3.1504.1504", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9HBL0-3.1514.1514", "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": "Q9HBL0-3.1504.1504", "start_pos": 1504, "end_pos": 1504, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSPTPALPEKRRMSVGDRAG", "down_seq": "LPNYATINGKVSSPVASGMS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1504" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9HBL0-3.1485.1485", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.1487.1487", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9HBL0-3.1497.1497", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.1514.1514", "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": "Q9HBL0-3.1550.1550", "start_pos": 1550, "end_pos": 1550, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "STVSFSHTLPDFSKYSMPDN", "down_seq": "PETRAKVKFVQDTSKYWYKP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1550" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9HBL0-3.1540.1540", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9HBL0-3.1551.1551", "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": "Q9HBL0-3.1692.1692", "start_pos": 1692, "end_pos": 1692, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVIPNRDPTDESKDSSGPAN", "down_seq": "TADLLKQGAACNVLFVNSVD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser1692" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "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": "Q9HBL0-3.463.463", "start_pos": 463, "end_pos": 463, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENGPSVSVDYNTSDPLIRWD", "down_seq": "YDNFSGHRDDGMEEVVGHTQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser463" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.446.446", "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": "Q9HBL0-3.489.489", "start_pos": 489, "end_pos": 489, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GHRDDGMEEVVGHTQGPLDG", "down_seq": "LYAKVKKKDSLHGSTGAVNA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser489" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9HBL0-3.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9HBL0-3.501.501", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9HBL0-3.503.503", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9HBL0-3.504.504", "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": "Q9HBL0-3.491.491", "start_pos": 491, "end_pos": 491, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RDDGMEEVVGHTQGPLDGSL", "down_seq": "AKVKKKDSLHGSTGAVNATR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Tyr491" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9HBL0-3.489.489", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9HBL0-3.501.501", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9HBL0-3.503.503", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9HBL0-3.504.504", "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": "Q9HBL0-3.503.503", "start_pos": 503, "end_pos": 503, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QGPLDGSLYAKVKKKDSLHG", "down_seq": "TGAVNATRPTLSATPNHVEH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser503" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9HBL0-3.489.489", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9HBL0-3.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9HBL0-3.501.501", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9HBL0-3.504.504", "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": "Q9HBL0-3.504.504", "start_pos": 504, "end_pos": 504, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GPLDGSLYAKVKKKDSLHGS", "down_seq": "GAVNATRPTLSATPNHVEHT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Thr504" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9HBL0-3.489.489", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9HBL0-3.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9HBL0-3.501.501", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9HBL0-3.503.503", "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": "Q9HBL0-3.558.558", "start_pos": 558, "end_pos": 558, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TKTDKTDEPVPGASSATAAL", "down_seq": "PQEKRELDRLLSGFGLEREK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser558" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBL0-3.541.541", "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": "Q9HBL0-3.746.746", "start_pos": 746, "end_pos": 746, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PQPVTTSHYAHDPSGMFRSQ", "down_seq": "FSEAEPQLPPAPVRGGSSRE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser746" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "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": "Q9HBL0-3.826.826", "start_pos": 826, "end_pos": 826, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPQPLAETPIPSLPEFPRAA", "down_seq": "QQEIEQSIETLNMLMLDLEP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser826" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "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": "Q9HBL0-3.889.889", "start_pos": 889, "end_pos": 889, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSSQPLSGSSRQSHPLTQSR", "down_seq": "GYIPSGHSLGTPEPAPRASL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser889" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9HBL0-3.894.894", "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": "Q9HBL0-3.894.894", "start_pos": 894, "end_pos": 894, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSGSSRQSHPLTQSRSGYIP", "down_seq": "GHSLGTPEPAPRASLESVPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser894" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9HBL0-3.889.889", "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": "Q9HBL0-3.919.919", "start_pos": 919, "end_pos": 919, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GTPEPAPRASLESVPPGRSY", "down_seq": "PYDYQPCLAGPNQDFHSKSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Ser919" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "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": "Q9HBL0-3.985.985", "start_pos": 985, "end_pos": 985, "uniprot_canonical_ac": "Q9HBL0-3", "length": 1839, "uniprot_id": "TENS1_HUMAN", "protein_name": "Tensin-1", "refseq_ac": "NP_001294951", "refseq_name": "tensin-1 isoform 2", "gene_name": "TNS1", "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" } ], "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": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGLTAQPLLSPKEATSDPSR", "down_seq": "PEEEPLNLEGLVAHRVAGVQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBL0", "url": "https://www.uniprot.org/uniprotkb/Q9HBL0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HBL0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBL0" } ], "site_lbl": "Thr985" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1735", "end_pos": "1735" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1592", "end_pos": "1592" }, { "start_pos": "369", "end_pos": "370" }, { "start_pos": "377", "end_pos": "378" }, { "start_pos": "427", "end_pos": "427" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "1150", "end_pos": "1150" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1252", "end_pos": "1252" }, { "start_pos": "1271", "end_pos": "1271" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "1286", "end_pos": "1286" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1388", "end_pos": "1388" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1441", "end_pos": "1441" }, { "start_pos": "1454", "end_pos": "1454" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1540", "end_pos": "1540" }, { "start_pos": "1551", "end_pos": "1551" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1649", "end_pos": "1649" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "1724", "end_pos": "1724" }, { "start_pos": "1735", "end_pos": "1735" }, { "start_pos": "1803", "end_pos": "1803" }, { "start_pos": "1820", "end_pos": "1820" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1024", "end_pos": "1024" }, { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1228", "end_pos": "1228" }, { "start_pos": "1281", "end_pos": "1281" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1370", "end_pos": "1370" }, { "start_pos": "1373", "end_pos": "1373" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1413", "end_pos": "1413" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1485", "end_pos": "1485" }, { "start_pos": "1497", "end_pos": "1497" }, { "start_pos": "1504", "end_pos": "1504" }, { "start_pos": "1550", "end_pos": "1550" }, { "start_pos": "1692", "end_pos": "1692" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "826", "end_pos": "826" }, { "start_pos": "889", "end_pos": "889" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "919", "end_pos": "919" }, { "start_pos": "985", "end_pos": "985" } ] } ], "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": "Q9H609-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9H609-1", "length": 170, "uniprot_id": "ZN576_HUMAN", "protein_name": "Zinc finger protein 576", "refseq_ac": "NP_001138819", "refseq_name": "zinc finger protein 576", "gene_name": "ZNF576", "gene_names_uniprotkb": "ZNF576", "gene_names_refseq": "ZNF576", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H609", "url": "https://www.uniprot.org/uniprotkb/Q9H609" } ], "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": "Q9H609", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H609" } ], "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": "Q9H609", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H609", "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": "Q9H609", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H609" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "164", "end_pos": "164" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "126", "end_pos": "126" } ] } ], "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": "Q9H609-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "Q9H609-1", "length": 170, "uniprot_id": "ZN576_HUMAN", "protein_name": "Zinc finger protein 576", "refseq_ac": "NP_001138819", "refseq_name": "zinc finger protein 576", "gene_name": "ZNF576", "gene_names_uniprotkb": "ZNF576", "gene_names_refseq": "ZNF576", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H609", "url": "https://www.uniprot.org/uniprotkb/Q9H609" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H609", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H609", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ACTECGQDFAQEAGLHQHYI", "down_seq": "HARGEL", "snv": [ { "evidence": [ { "id": "Q9H609", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H609" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "43599235", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R164", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "164", "end_pos": "164" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "126", "end_pos": "126" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H609-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "Q9H609-1", "length": 170, "uniprot_id": "ZN576_HUMAN", "protein_name": "Zinc finger protein 576", "refseq_ac": "NP_001138819", "refseq_name": "zinc finger protein 576", "gene_name": "ZNF576", "gene_names_uniprotkb": "ZNF576", "gene_names_refseq": "ZNF576", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H609", "url": "https://www.uniprot.org/uniprotkb/Q9H609" } ], "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": "Q9H609", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H609" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9H609", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H609", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TLPVATTTAQPTFPCPDCGK", "down_seq": "FGQAVSLRRHRQMHEVRAPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H609", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H609" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr120" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "164", "end_pos": "164" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "126", "end_pos": "126" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9H609-1.126.126", "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": "Q9H609-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "Q9H609-1", "length": 170, "uniprot_id": "ZN576_HUMAN", "protein_name": "Zinc finger protein 576", "refseq_ac": "NP_001138819", "refseq_name": "zinc finger protein 576", "gene_name": "ZNF576", "gene_names_uniprotkb": "ZNF576", "gene_names_refseq": "ZNF576", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H609", "url": "https://www.uniprot.org/uniprotkb/Q9H609" } ], "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": "Q9H609", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H609" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9H609", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H609", "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": "TTAQPTFPCPDCGKTFGQAV", "down_seq": "LRRHRQMHEVRAPPGTFACT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H609", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H609" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser126" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "164", "end_pos": "164" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "126", "end_pos": "126" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9H609-1.120.120", "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": "Q9UM73-1.1026.1026", "start_pos": 1026, "end_pos": 1026, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "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": "rs781515382", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781515382", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781515382", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781515382", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781515382", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781515382#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781515382", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781515382", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1294581592", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294581592", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1294581592", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294581592", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs781515382", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781515382", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CFCDHGTVLAEDGVSCIVSP", "down_seq": "PEPHLPLSLILSVVTSALVA", "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": "Thr1026", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs781515382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781515382" }, { "id": "rs781515382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781515382" }, { "id": "rs781515382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781515382#frequency_tab" }, { "id": "rs781515382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781515382" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "2", "chr_pos": "29225557", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1026", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294581592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294581592" }, { "id": "rs1294581592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294581592" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "29225556", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1026", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294581592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294581592" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "2", "chr_pos": "29225556", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1026", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781515382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781515382" }, { "id": "rs781515382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781515382" }, { "id": "rs781515382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781515382#frequency_tab" }, { "id": "rs781515382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781515382" }, { "id": "rs781515382", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781515382" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "2", "chr_pos": "29225557", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1026", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.1010.1010", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1022.1022", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.1036.1036", "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": 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": "Q9UM73-1.1604.1604", "start_pos": 1604, "end_pos": 1604, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Dermatan sulphate is an activating ligand of anaplastic lymphoma kinase.", "journal": "Journal of biochemistry", "date": "2021-12-28", "authors": "Machino Masaaki, Gong Yuanhao, Ozaki Tomoya, Suzuki Yuji, Watanabe Eri, Imagama Shiro, Kadomatsu Kenji, Sakamoto Kazuma", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "34270745", "url": "https://glygen.org/publication/PubMed/34270745" } ] }, { "title": "Nucleophosmin-anaplastic lymphoma kinase of large-cell anaplastic lymphoma is a constitutively active tyrosine kinase that utilizes phospholipase C-gamma to mediate its mitogenicity.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Bai RY, Dieter P, Peschel C, Morris SW, Duyster J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "9819383", "url": "https://glygen.org/publication/PubMed/9819383" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Comparison of 2 cell-based phosphoprotein assays to support screening and development of an ALK inhibitor.", "journal": "Journal of biomolecular screening", "date": "2011", "authors": "Drew AE, Al-Assaad S, Yu V, Andrews P, Merkel P, Szilvassy S, Emkey R, Lewis R, Brake RL", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "21297104", "url": "https://glygen.org/publication/PubMed/21297104" } ] }, { "title": "Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.", "journal": "Cancer medicine", "date": "2015", "authors": "Fontana D, Ceccon M, Gambacorti-Passerini C, Mologni L", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "25727400", "url": "https://glygen.org/publication/PubMed/25727400" } ] }, { "title": "FAM150A and FAM150B are activating ligands for anaplastic lymphoma kinase.", "journal": "eLife", "date": "2015", "authors": "Guan J, Umapathy G, Yamazaki Y, Wolfstetter G, Mendoza P, Pfeifer K, Mohammed A, Hugosson F, Zhang H, Hsu AW, Halenbeck R, Hallberg B, Palmer RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "26418745", "url": "https://glygen.org/publication/PubMed/26418745" } ] }, { "title": "Identification of different ALK mutations in a pair of neuroblastoma cell lines established at diagnosis and relapse.", "journal": "Oncotarget", "date": "2016", "authors": "Chen L, Humphreys A, Turnbull L, Bellini A, Schleiermacher G, Salwen H, Cohn SL, Bown N, Tweddle DA", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "27888620", "url": "https://glygen.org/publication/PubMed/27888620" } ] }, { "title": "Anaplastic lymphoma kinase L1198F and G1201E mutations identified in anaplastic thyroid cancer patients are not ligand-independent.", "journal": "Oncotarget", "date": "2017", "authors": "Guan J, Wolfstetter G, Siaw J, Chand D, Hugosson F, Palmer RH, Hallberg B", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "28030793", "url": "https://glygen.org/publication/PubMed/28030793" } ] }, { "title": "A kinome-wide RNAi screen identifies ALK as a target to sensitize neuroblastoma cells for HDAC8-inhibitor treatment.", "journal": "Cell death and differentiation", "date": "2018", "authors": "Shen J, Najafi S, Stable S, Fabian J, Koeneke E, Kolbinger FR, Wrobel JK, Meder B, Distel M, Heimburg T, Sippl W, Jung M, Peterziel H, Kranz D, Boutros M, Westermann F, Witt O, Oehme I", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "29515255", "url": "https://glygen.org/publication/PubMed/29515255" } ] }, { "title": "A subgroup of pleural mesothelioma expresses ALK protein and may be targetable by combined rapamycin and crizotinib therapy.", "journal": "Oncotarget", "date": "2018", "authors": "Monch D, Bode-Erdmann S, Kalla J, Strater J, Schwanen C, Falkenstern-Ge R, Klumpp S, Friedel G, Ott G, Kalla C", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "29755689", "url": "https://glygen.org/publication/PubMed/29755689" } ] }, { "title": "Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib.", "journal": "Cold Spring Harbor molecular case studies", "date": "2018-08", "authors": "Guan Jikui, Fransson Susanne, Siaw Joachim Tetteh, Treis Diana, Van den Eynden Jimmy, Chand Damini, Umapathy Ganesh, Ruuth Kristina, Svenberg Petter, Wessman Sandra, Shamikh Alia, Jacobsson Hans, Gordon Lena, Stenman Jakob, Svensson P\u00e4r-Johan, Hansson Magnus, Larsson Erik, Martinsson Tommy, Palmer Ruth H, Kogner Per, Hallberg Bengt", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "29907598", "url": "https://glygen.org/publication/PubMed/29907598" } ] }, { "title": "Alectinib, an Anaplastic Lymphoma Kinase Inhibitor, Abolishes ALK Activity and Growth in ALK-Positive Neuroblastoma Cells.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Alam MW, Borenas M, Lind DE, Cervantes-Madrid D, Umapathy G, Palmer RH, Hallberg B", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "31334113", "url": "https://glygen.org/publication/PubMed/31334113" } ] }, { "title": "Repotrectinib (TPX-0005), effectively reduces growth of ALK driven neuroblastoma cells.", "journal": "Scientific reports", "date": "2019-12-18", "authors": "Cervantes-Madrid Diana, Szydzik Joanna, Lind Dan Emil, Boren\u00e4s Marcus, Bemark Mats, Cui Jean, Palmer Ruth Helen, Hallberg Bengt", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "31852910", "url": "https://glygen.org/publication/PubMed/31852910" } ] } ], "crossref": [ { "id": "34270745", "url": "https://glygen.org/publication/PubMed/34270745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753750497", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753750497", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753750497", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753750497", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753750497", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753750497#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753750497", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753750497", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs372440265", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372440265", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372440265", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372440265", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372440265", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372440265#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372440265", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372440265", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs372440265", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372440265", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2148137030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148137030", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148137030", "url": "https://www.ensembl.org/id/rs2148137030", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "9819383", "url": "https://glygen.org/publication/PubMed/9819383", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21297104", "url": "https://glygen.org/publication/PubMed/21297104", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25727400", "url": "https://glygen.org/publication/PubMed/25727400", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26418745", "url": "https://glygen.org/publication/PubMed/26418745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27888620", "url": "https://glygen.org/publication/PubMed/27888620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28030793", "url": "https://glygen.org/publication/PubMed/28030793", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29515255", "url": "https://glygen.org/publication/PubMed/29515255", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29755689", "url": "https://glygen.org/publication/PubMed/29755689", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29907598", "url": "https://glygen.org/publication/PubMed/29907598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31334113", "url": "https://glygen.org/publication/PubMed/31334113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31852910", "url": "https://glygen.org/publication/PubMed/31852910", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YGYQQQGLPLEAATAPGAGH", "down_seq": "EDTILKSKNSMNQPGP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "Y", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Tyr", "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr1604", "evidence": [ { "id": "34270745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34270745" }, { "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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs753750497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753750497" }, { "id": "rs753750497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753750497" }, { "id": "rs753750497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753750497#frequency_tab" }, { "id": "rs753750497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753750497" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "4", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (Y->*).", "chr_id": "2", "chr_pos": "29193275", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y1604", "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": "rs372440265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372440265" }, { "id": "rs372440265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372440265" }, { "id": "rs372440265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372440265#frequency_tab" }, { "id": "rs372440265", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372440265" }, { "id": "rs372440265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372440265" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (Y->C).", "chr_id": "NC_000002.12", "chr_pos": "29193276", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "0.000020", "site_lbl": "Y1604", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs2148137030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148137030" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (Y->H).", "chr_id": "2", "chr_pos": "29193277", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148137030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148137030" }, { "id": "rs2148137030", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148137030" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (Y->N).", "chr_id": "2", "chr_pos": "29193277", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1604", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9UM73-1", "kinase_gene_name": "ALK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "9819383", "url": "https://glygen.org/publication/PubMed/9819383" } ], "site_lbl": "Tyr1604" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "21297104", "url": "https://glygen.org/publication/PubMed/21297104" }, { "database": "PubMed", "id": "25727400", "url": "https://glygen.org/publication/PubMed/25727400" }, { "database": "PubMed", "id": "26418745", "url": "https://glygen.org/publication/PubMed/26418745" }, { "database": "PubMed", "id": "27888620", "url": "https://glygen.org/publication/PubMed/27888620" }, { "database": "PubMed", "id": "28030793", "url": "https://glygen.org/publication/PubMed/28030793" }, { "database": "PubMed", "id": "29515255", "url": "https://glygen.org/publication/PubMed/29515255" }, { "database": "PubMed", "id": "29755689", "url": "https://glygen.org/publication/PubMed/29755689" }, { "database": "PubMed", "id": "29907598", "url": "https://glygen.org/publication/PubMed/29907598" }, { "database": "PubMed", "id": "31334113", "url": "https://glygen.org/publication/PubMed/31334113" }, { "database": "PubMed", "id": "31852910", "url": "https://glygen.org/publication/PubMed/31852910" } ], "site_lbl": "Tyr1604" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1584.1584", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1585.1585", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1615.1615", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1618.1618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "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": 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", "mining_tool" ] }, { "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": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UM73-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs932619554", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs932619554", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs932619554", "url": "https://www.ensembl.org/id/rs932619554", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs780271684", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271684", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780271684", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271684", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780271684", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780271684", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs752129360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752129360", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752129360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752129360", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752129360", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752129360#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752129360", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752129360", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AILEGCVGPPGEAAVGLLQF", "down_seq": "LSELFSWWIRQGEGRLRIRL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn169", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs932619554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs932619554" }, { "id": "rs932619554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs932619554" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "2", "chr_pos": "29920155", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs932619554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs932619554" }, { "id": "rs932619554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs932619554" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "2", "chr_pos": "29920155", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780271684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271684" }, { "id": "rs780271684", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271684" }, { "id": "rs780271684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780271684" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "2", "chr_pos": "29920153", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs752129360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752129360" }, { "id": "rs752129360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752129360" }, { "id": "rs752129360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752129360#frequency_tab" }, { "id": "rs752129360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752129360" } ], "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 (NLS->SLS).", "chr_id": "2", "chr_pos": "29920154", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N169", "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" ] }, { "evidence": [ { "id": "rs932619554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs932619554" }, { "id": "rs932619554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs932619554" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->YLS).", "chr_id": "2", "chr_pos": "29920155", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N169", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.182.182", "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": 5 } ], "sort_fields": [ "sequence_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": 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": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763986679", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763986679", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763986679", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763986679", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763986679", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763986679", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753646573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753646573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753646573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753646573", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753646573", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753646573#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753646573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753646573", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HSSLESPTNMPSPSPDYFTW", "down_seq": "LTWIMKDSFPFLSHRSRYGL", "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": "Asn244", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "2", "chr_pos": "29717633", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N244", "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": "rs763986679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763986679" }, { "id": "rs763986679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763986679" }, { "id": "rs763986679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763986679" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->TLT).", "chr_id": "2", "chr_pos": "29717634", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753646573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753646573" }, { "id": "rs753646573", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753646573" }, { "id": "rs753646573", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753646573#frequency_tab" }, { "id": "rs753646573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753646573" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->YLT).", "chr_id": "2", "chr_pos": "29717635", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.246.246", "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": "Q9UM73-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs2148289885", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289885", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148289885", "url": "https://www.ensembl.org/id/rs2148289885", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs978696489", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978696489", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs978696489", "url": "https://www.ensembl.org/id/rs978696489", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ECSFDFPCELEYSPPLHDLR", "down_seq": "QSWSWRRIPSEEASQMDLLD", "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": "Asn285", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs2148289885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289885" }, { "id": "rs2148289885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148289885" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->IQS).", "chr_id": "2", "chr_pos": "29694948", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs978696489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978696489" }, { "id": "rs978696489", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs978696489" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NQS->KQS).", "chr_id": "2", "chr_pos": "29694947", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N285", "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": "rs2148289885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289885" }, { "id": "rs2148289885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148289885" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->TQS).", "chr_id": "2", "chr_pos": "29694948", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N285", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.301.301", "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", "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": "Q9UM73-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs781771386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781771386", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781771386", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781771386", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1558370621", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558370621", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1558370621", "url": "https://www.ensembl.org/id/rs1558370621", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LDGPGAERSKEMPRGSFLLL", "down_seq": "TSADSKHTILSPWMRSSSEH", "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": "Asn324", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs781771386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781771386" }, { "id": "rs781771386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781771386" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->DTS).", "chr_id": "2", "chr_pos": "29532099", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1558370621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558370621" }, { "id": "rs1558370621", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1558370621" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->STS).", "chr_id": "2", "chr_pos": "29532098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N324", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.344.344", "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": "Q9UM73-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "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": "RYIAQLLPHNEAAREILLMP", "down_seq": "PGKHGWTVLQGRIGRPDNPF", "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": "Thr380", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 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": "Q9UM73-1.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148301554", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301554", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148301554", "url": "https://www.ensembl.org/id/rs2148301554", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1573303431", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573303431", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1573303431", "url": "https://www.ensembl.org/id/rs1573303431", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148301561", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301561", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148301561", "url": "https://www.ensembl.org/id/rs2148301561", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GRIGRPDNPFRVALEYISSG", "down_seq": "RSLSAVDFFALKNCSEGTSP", "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": "Asn411", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NRS->HRS).", "chr_id": "2", "chr_pos": "29383783", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N411", "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": "rs2148301554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301554" }, { "id": "rs2148301554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301554" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->IRS).", "chr_id": "2", "chr_pos": "29383782", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1573303431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573303431" }, { "id": "rs1573303431", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1573303431" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->KRS).", "chr_id": "2", "chr_pos": "29383781", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148301554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301554" }, { "id": "rs2148301554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301554" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "2", "chr_pos": "29383782", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148301554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301554" }, { "id": "rs2148301554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301554" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->TRS).", "chr_id": "2", "chr_pos": "29383782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148301561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301561" }, { "id": "rs2148301561", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301561" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->YRS).", "chr_id": "2", "chr_pos": "29383783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N411", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": 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": "Q9UM73-1.424.424", "start_pos": 424, "end_pos": 424, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs771340984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771340984", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771340984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771340984", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771340984", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771340984#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771340984", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771340984", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1668961804", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668961804", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1668961804", "url": "https://www.ensembl.org/id/rs1668961804", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs747832091", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747832091", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747832091", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747832091", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747832091", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747832091", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LEYISSGNRSLSAVDFFALK", "down_seq": "CSEGTSPGSKMALQSSFTCW", "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": "Asn424", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs771340984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771340984" }, { "id": "rs771340984", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771340984" }, { "id": "rs771340984", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771340984#frequency_tab" }, { "id": "rs771340984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771340984" } ], "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": "2", "chr_pos": "29383744", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1668961804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668961804" }, { "id": "rs1668961804", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668961804" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->ICS).", "chr_id": "2", "chr_pos": "29383743", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747832091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747832091" }, { "id": "rs747832091", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747832091" }, { "id": "rs747832091", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747832091" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->KCS).", "chr_id": "2", "chr_pos": "29383742", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "2", "chr_pos": "29383743", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N424", "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": "rs1668961804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668961804" }, { "id": "rs1668961804", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668961804" } ], "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": "2", "chr_pos": "29383743", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N424", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": 5 } ], "sort_fields": [ "sequence_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": 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": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.445.445", "start_pos": 445, "end_pos": 445, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs2465459576", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465459576", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148258353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148258353", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148258353", "url": "https://www.ensembl.org/id/rs2148258353", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CSEGTSPGSKMALQSSFTCW", "down_seq": "GTVLQLGQACDFHQDCAQGE", "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": "Asn445", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs2465459576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465459576" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->HGT).", "chr_id": "2", "chr_pos": "29328431", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148258353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148258353" }, { "id": "rs2148258353", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148258353" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "2", "chr_pos": "29328429", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N445", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.452.452", "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": "Q9UM73-1.563.563", "start_pos": 563, "end_pos": 563, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs565743321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565743321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs565743321", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565743321", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs565743321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565743321", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs565743321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565743321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs565743321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565743321", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IKSSPCELRMSWLIRGVLRG", "down_seq": "VSLVLVENKTGKEQGRMVWH", "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": "Asn563", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs565743321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565743321" }, { "id": "rs565743321", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565743321" }, { "id": "rs565743321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565743321" }, { "id": "rs565743321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565743321#frequency_tab" }, { "id": "rs565743321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565743321" } ], "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": "2", "chr_pos": "29297016", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N563", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.574.574", "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": "Q9UM73-1.571.571", "start_pos": 571, "end_pos": 571, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs902275025", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902275025", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs902275025", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902275025#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs902275025", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902275025", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1666205342", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666205342", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1666205342", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1666205342#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RMSWLIRGVLRGNVSLVLVE", "down_seq": "KTGKEQGRMVWHVAAYEGLS", "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": "Asn571", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs902275025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902275025" }, { "id": "rs902275025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902275025#frequency_tab" }, { "id": "rs902275025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902275025" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->KKT).", "chr_id": "2", "chr_pos": "29296992", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1666205342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666205342" }, { "id": "rs1666205342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1666205342#frequency_tab" } ], "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": "2", "chr_pos": "29296993", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N571", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.563.563", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.586.586", "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": "Q9UM73-1.627.627", "start_pos": 627, "end_pos": 627, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1665516024", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1665516024", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1665516024", "url": "https://www.ensembl.org/id/rs1665516024", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1025380501", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025380501", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1025380501", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1025380501#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FWLQMVAWWGQGSRAIVAFD", "down_seq": "ISISLDCYLTISGEDKILQN", "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": "Asn627", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1665516024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1665516024" }, { "id": "rs1665516024", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1665516024" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->DIS).", "chr_id": "2", "chr_pos": "29275435", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1665516024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1665516024" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->HIS).", "chr_id": "2", "chr_pos": "29275435", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1025380501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025380501" }, { "id": "rs1025380501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1025380501#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->SIS).", "chr_id": "2", "chr_pos": "29275434", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1025380501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025380501" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->TIS).", "chr_id": "2", "chr_pos": "29275434", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N627", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.629.629", "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": 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": "Q9UM73-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7NWZ", "url": "https://www.rcsb.org/structure/7NWZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX3", "url": "https://www.rcsb.org/structure/7NX3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NWZ|E|709", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX3|F|709", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX3|A|709", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1573160589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573160589", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1573160589", "url": "https://www.ensembl.org/id/rs1573160589", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1573160589", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1573160589", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs376175333", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376175333", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376175333", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376175333", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs376175333", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376175333", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376175333", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376175333#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376175333", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376175333", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs376175333", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376175333", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GASGPHGPTQAQCNNAYQNS", "down_seq": "LSVEVGSEGPLKGIQIWKVP", "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=7NWZ&bu=0&command=select+.E:709;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn709", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" }, { "id": "7NWZ", "database": "PDB", "url": "https://www.rcsb.org/structure/7NWZ" }, { "id": "7NX3", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX3" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1573160589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573160589" }, { "id": "rs1573160589", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1573160589" }, { "id": "rs1573160589", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1573160589" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLS->SLS); n-glyco-sequon-gain (NSN->NSS).", "chr_id": "2", "chr_pos": "29251183", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N709", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1573160589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573160589" }, { "id": "rs1573160589", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1573160589" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->TLS); n-glyco-sequon-gain (NSN->NST).", "chr_id": "2", "chr_pos": "29251183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N709", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1573160589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573160589" }, { "id": "rs1573160589", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1573160589" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->ILS).", "chr_id": "2", "chr_pos": "29251183", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N709", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376175333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376175333" }, { "id": "rs376175333", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376175333" }, { "id": "rs376175333", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376175333" }, { "id": "rs376175333", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376175333#frequency_tab" }, { "id": "rs376175333", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376175333" }, { "id": "rs376175333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376175333" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "NC_000002.12", "chr_pos": "29251182", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "0.00399", "site_lbl": "N709", "keywords": [ "ebi", "somatic", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.717.717", "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": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.808.808", "start_pos": 808, "end_pos": 808, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7NWZ", "url": "https://www.rcsb.org/structure/7NWZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX4", "url": "https://www.rcsb.org/structure/7NX4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NWZ|F|808", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NWZ|E|808", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NWZ|B|808", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NWZ|A|808", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX4|A|808", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148184532", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148184532", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148184532", "url": "https://www.ensembl.org/id/rs2148184532", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148184532", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148184532", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1664283510", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664283510", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QLIQKVCIGENNVIEEEIRV", "down_seq": "RSVHEWAGGGGGGGGATYVF", "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=7NWZ&bu=0&command=select+.F:808;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn808", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" }, { "id": "7NWZ", "database": "PDB", "url": "https://www.rcsb.org/structure/7NWZ" }, { "id": "7NX4", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX4" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148184532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148184532" }, { "id": "rs2148184532", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148184532" }, { "id": "rs2148184532", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148184532" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "2", "chr_pos": "29233629", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N808", "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" ] }, { "evidence": [ { "id": "rs1664283510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664283510" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->XRS).", "chr_id": "2", "chr_pos": "29233632", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N808", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.801.801", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.810.810", "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": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q9UM73-1.863.863", "start_pos": 863, "end_pos": 863, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7NX4", "url": "https://www.rcsb.org/structure/7NX4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX4|A|863", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GGGGRAYGAKTDTFHPERLE", "down_seq": "NSSVLGLNGNSGAAGGGGGW", "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=7NX4&bu=0&command=select+.A:863;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn863", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" }, { "id": "7NX4", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX4" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "3601", "subjects_positive": "6", "frequency": "0.2", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "2", "chr_pos": "29232348", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N863", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.850.850", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.859.859", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.864.864", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.875.875", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.864.864", "start_pos": 864, "end_pos": 864, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7LS0", "url": "https://www.rcsb.org/structure/7LS0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NWZ", "url": "https://www.rcsb.org/structure/7NWZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX3", "url": "https://www.rcsb.org/structure/7NX3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX4", "url": "https://www.rcsb.org/structure/7NX4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LS0|D|864", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NWZ|E|864", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX3|F|864", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX4|A|864", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GGGRAYGAKTDTFHPERLEN", "down_seq": "SSVLGLNGNSGAAGGGGGWN", "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=7LS0&bu=0&command=select+.D:864;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn864", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" }, { "id": "7LS0", "database": "PDB", "url": "https://www.rcsb.org/structure/7LS0" }, { "id": "7NWZ", "database": "PDB", "url": "https://www.rcsb.org/structure/7NWZ" }, { "id": "7NX3", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX3" }, { "id": "7NX4", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.850.850", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.859.859", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.863.863", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.875.875", "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", "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": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 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": "Q9UM73-1.886.886", "start_pos": 886, "end_pos": 886, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7NX3", "url": "https://www.rcsb.org/structure/7NX3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX3|F|886", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX3|A|886", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs2148180711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148180711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148180711", "url": "https://www.ensembl.org/id/rs2148180711", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1452092742", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452092742", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1452092742", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1452092742#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1452092742", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452092742", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SVLGLNGNSGAAGGGGGWND", "down_seq": "TSLLWAGKSLQEGATGGHSC", "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=7NX3&bu=0&command=select+.F:886;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn886", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" }, { "id": "7NX3", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX3" } ] } ], "snv": [ { "evidence": [ { "id": "rs2148180711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148180711" }, { "id": "rs2148180711", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148180711" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->DTS).", "chr_id": "2", "chr_pos": "29229043", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N886", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1452092742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452092742" }, { "id": "rs1452092742", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1452092742#frequency_tab" }, { "id": "rs1452092742", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452092742" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->ITS).", "chr_id": "2", "chr_pos": "29229042", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N886", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.875.875", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.885.885", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.888.888", "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": 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": "Q9UM73-1.986.986", "start_pos": 986, "end_pos": 986, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7NX3", "url": "https://www.rcsb.org/structure/7NX3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX4", "url": "https://www.rcsb.org/structure/7NX4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NX3|F|986", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX3|A|986", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "7NX4|A|986", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs2148178620", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178620", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148178620", "url": "https://www.ensembl.org/id/rs2148178620", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1664021800", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664021800", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664021800", "url": "https://www.ensembl.org/id/rs1664021800", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YTPALKVMEGHGEVNIKHYL", "down_seq": "CSHCEVDECHMDPESHKVIC", "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=7NX3&bu=0&command=select+.F:986;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn986", "evidence": [ { "id": "Q9UM73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9UM73#ptm_processing" }, { "id": "7NX3", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX3" }, { "id": "7NX4", "database": "PDB", "url": "https://www.rcsb.org/structure/7NX4" } ] } ], "snv": [ { "evidence": [ { "id": "rs2148178620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178620" }, { "id": "rs2148178620", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178620" } ], "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": "2", "chr_pos": "29227033", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1664021800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664021800" }, { "id": "rs1664021800", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664021800" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->ICS).", "chr_id": "2", "chr_pos": "29227032", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1664021800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664021800" }, { "id": "rs1664021800", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664021800" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "2", "chr_pos": "29227032", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148178620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178620" }, { "id": "rs2148178620", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178620" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->YCS).", "chr_id": "2", "chr_pos": "29227033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N986", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.966.966", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.974.974", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.988.988", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.993.993", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.994.994", "categories": [ "mutagenesis_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", "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": 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": "Q9UM73-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "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": "Q9UM73", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UM73", "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": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q9UM73", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UM73" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "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": "Q9UM73-1.1507.1507", "start_pos": 1507, "end_pos": 1507, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ALK activation induces Shc and FRS2 recruitment: Signaling and phenotypic outcomes in PC12 cells differentiation.", "journal": "FEBS letters", "date": "2007", "authors": "Degoutin J, Vigny M, Gouzi JY", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "17274988", "url": "https://glygen.org/publication/PubMed/17274988" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "ALK Inhibitors-Induced M Phase Delay Contributes to the Suppression of Cell Proliferation.", "journal": "Cancers", "date": "2020-04-24", "authors": "Munira Sirajam, Yuki Ryuzaburo, Saito Youhei, Nakayama Yuji", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "32344689", "url": "https://glygen.org/publication/PubMed/32344689" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17274988", "url": "https://glygen.org/publication/PubMed/17274988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2148138043", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138043", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148138043", "url": "https://www.ensembl.org/id/rs2148138043", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32344689", "url": "https://glygen.org/publication/PubMed/32344689", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SELHKVHGSRNKPTSLWNPT", "down_seq": "GSWFTEKPTKKNNPIAKKEP", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Impairs interaction with SHC1.", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "17274988", "url": "https://glygen.org/publication/PubMed/17274988" } ] } ], "snv": [ { "evidence": [ { "id": "rs2148138043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138043" }, { "id": "rs2148138043", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138043" } ], "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 (YGS->NGS).", "chr_id": "2", "chr_pos": "29193568", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1507", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "17274988", "url": "https://glygen.org/publication/PubMed/17274988" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "32344689", "url": "https://glygen.org/publication/PubMed/32344689" } ], "site_lbl": "Tyr1507" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1521.1521", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UM73-1.48.52", "start_pos": 48, "end_pos": 52, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Heparin is an activating ligand of the orphan receptor tyrosine kinase ALK.", "journal": "Science signaling", "date": "2015", "authors": "Murray PB, Lax I, Reshetnyak A, Ligon GF, Lillquist JS, Natoli EJ Jr, Shi X, Folta-Stogniew E, Gunel M, Alvarado D, Schlessinger J", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "25605972", "url": "https://glygen.org/publication/PubMed/25605972" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25605972", "url": "https://glygen.org/publication/PubMed/25605972", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RLQRK", "start_aa": "R", "up_seq": "RAGSPAAGPPLQPREPLSYS", "down_seq": "SLAVDFVVPSLFRVYARDLL", "mutagenesis": [ { "sequence_org": "RLQRK", "sequence_mut": "ELQEE", "comment": "Abolished heparin-binding, leading to decreased ALK activation.", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "25605972", "url": "https://glygen.org/publication/PubMed/25605972" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.47.47", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.62.62", "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": "Q9UM73-1.859.859", "start_pos": 859, "end_pos": 859, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism for the activation of the anaplastic lymphoma kinase receptor.", "journal": "Nature", "date": "2021", "authors": "Reshetnyak AV, Rossi P, Myasnikov AG, Sowaileh M, Mohanty J, Nourse A, Miller DJ, Lax I, Schlessinger J, Kalodimos CG", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IIAAGGGGRAYGAKTDTFHP", "down_seq": "RLENNSSVLGLNGNSGAAGG", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Slightly decreased autophosphorylation. Decreased autophosphorylation and subsequent activation; when associated with A-974.", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29232359", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E859", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.850.850", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.863.863", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.864.864", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.875.875", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "Q9UM73-1.966.966", "start_pos": 966, "end_pos": 966, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism for the activation of the anaplastic lymphoma kinase receptor.", "journal": "Nature", "date": "2021", "authors": "Reshetnyak AV, Rossi P, Myasnikov AG, Sowaileh M, Mohanty J, Nourse A, Miller DJ, Lax I, Schlessinger J, Kalodimos CG", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NDPEMDGEDGVSFISPLGIL", "down_seq": "TPALKVMEGHGEVNIKHYLN", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Slightly decreased autophosphorylation. Strongly reduced autophosphorylation and subsequent activation; when associated with A-994.", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.948.948", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.949.949", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.974.974", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.986.986", "categories": [ "glycosylation_flag", "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": "Q9UM73-1.974.974", "start_pos": 974, "end_pos": 974, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism for the activation of the anaplastic lymphoma kinase receptor.", "journal": "Nature", "date": "2021", "authors": "Reshetnyak AV, Rossi P, Myasnikov AG, Sowaileh M, Mohanty J, Nourse A, Miller DJ, Lax I, Schlessinger J, Kalodimos CG", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DGVSFISPLGILYTPALKVM", "down_seq": "GHGEVNIKHYLNCSHCEVDE", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Slightly decreased autophosphorylation. Decreased autophosphorylation and subsequent activation; when associated with A-859.", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.966.966", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.986.986", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.988.988", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.993.993", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.994.994", "categories": [ "mutagenesis_flag", "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": "Q9UM73-1.994.994", "start_pos": 994, "end_pos": 994, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism for the activation of the anaplastic lymphoma kinase receptor.", "journal": "Nature", "date": "2021", "authors": "Reshetnyak AV, Rossi P, Myasnikov AG, Sowaileh M, Mohanty J, Nourse A, Miller DJ, Lax I, Schlessinger J, Kalodimos CG", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EGHGEVNIKHYLNCSHCEVD", "down_seq": "CHMDPESHKVICFCDHGTVL", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "SlStrongly reduced autophosphorylation and subsequent activation; when associated with A-966.", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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 (4).", "chr_id": "2", "chr_pos": "29227009", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E994", "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: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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.974.974", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.986.986", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.988.988", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.993.993", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.1010.1010", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "Q9UM73-1.1585.1585", "start_pos": 1585, "end_pos": 1585, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1573077410", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573077410", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1573077410", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1573077410#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1573077410", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1573077410", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1573077410", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1573077410", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NMKEVPLFRLRHFPCGNVNY", "down_seq": "YQQQGLPLEAATAPGAGHYE", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1573077410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573077410" }, { "id": "rs1573077410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1573077410#frequency_tab" }, { "id": "rs1573077410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1573077410" }, { "id": "rs1573077410", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1573077410" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NYG->NYS).", "chr_id": "2", "chr_pos": "29193334", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1585", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID: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" ] }, { "evidence": [ { "id": "rs1573077410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573077410" }, { "id": "rs1573077410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1573077410#frequency_tab" }, { "id": "rs1573077410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1573077410" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYG->NYC).", "chr_id": "2", "chr_pos": "29193334", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1585", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.1575.1575", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1583.1583", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1584.1584", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1604.1604", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q9UM73-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148289868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289868", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148289868", "url": "https://www.ensembl.org/id/rs2148289868", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148289870", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289870", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148289870", "url": "https://www.ensembl.org/id/rs2148289870", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1321970113", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321970113", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1321970113", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321970113", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SFDFPCELEYSPPLHDLRNQ", "down_seq": "WSWRRIPSEEASQMDLLDGP", "snv": [ { "evidence": [ { "id": "rs2148289868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289868" }, { "id": "rs2148289868", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148289868" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SWS->NWS); n-glyco-sequon-loss (NQS->NQN).", "chr_id": "2", "chr_pos": "29694942", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148289870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148289870" }, { "id": "rs2148289870", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148289870" } ], "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 (NQS->NQG).", "chr_id": "2", "chr_pos": "29694943", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321970113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321970113" }, { "id": "rs1321970113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321970113" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->NQR).", "chr_id": "2", "chr_pos": "29694941", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S287", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9UM73-1.401.401", "start_pos": 401, "end_pos": 401, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PGKHGWTVLQGRIGRPDNPF", "down_seq": "VALEYISSGNRSLSAVDFFA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "12", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: patient count (12/3601); num. of cancers (5).", "chr_id": "2", "chr_pos": "29383813", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R401", "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "29383812", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R401", "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:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q9UM73-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1160873517", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160873517", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1160873517", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160873517", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1477421090", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477421090", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1477421090", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477421090#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1477421090", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477421090", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2148301523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148301523", "url": "https://www.ensembl.org/id/rs2148301523", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IGRPDNPFRVALEYISSGNR", "down_seq": "LSAVDFFALKNCSEGTSPGS", "snv": [ { "evidence": [ { "id": "rs1160873517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160873517" }, { "id": "rs1160873517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160873517" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SLS->NLS); n-glyco-sequon-loss (NRS->NRN).", "chr_id": "2", "chr_pos": "29383776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477421090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477421090" }, { "id": "rs1477421090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477421090#frequency_tab" }, { "id": "rs1477421090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477421090" } ], "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 (NRS->NRG).", "chr_id": "2", "chr_pos": "29383777", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160873517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160873517" }, { "id": "rs1160873517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160873517" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->NRI).", "chr_id": "2", "chr_pos": "29383776", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148301523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301523" }, { "id": "rs2148301523", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301523" } ], "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 (NRS->NRR).", "chr_id": "2", "chr_pos": "29383775", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": 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": "Q9UM73-1.865.865", "start_pos": 865, "end_pos": 865, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1664236706", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664236706", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664236706", "url": "https://www.ensembl.org/id/rs1664236706", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1664236706", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1664236706", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GGRAYGAKTDTFHPERLENN", "down_seq": "SVLGLNGNSGAAGGGGGWND", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1664236706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664236706" }, { "id": "rs1664236706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664236706" }, { "id": "rs1664236706", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1664236706" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NPS); n-glyco-sequon-loss (NNS->NNP).", "chr_id": "2", "chr_pos": "29232343", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S865", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.850.850", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.859.859", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.863.863", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.864.864", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.875.875", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.885.885", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.988.988", "start_pos": 988, "end_pos": 988, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148178599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178599", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148178599", "url": "https://www.ensembl.org/id/rs2148178599", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148178599", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148178599", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs2148178601", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178601", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148178601", "url": "https://www.ensembl.org/id/rs2148178601", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148178595", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178595", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148178595", "url": "https://www.ensembl.org/id/rs2148178595", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PALKVMEGHGEVNIKHYLNC", "down_seq": "HCEVDECHMDPESHKVICFC", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148178599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178599" }, { "id": "rs2148178599", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178599" }, { "id": "rs2148178599", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148178599" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "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 (SHC->NHC); n-glyco-sequon-loss (NCS->NCN).", "chr_id": "2", "chr_pos": "29227026", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S988", "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" ] }, { "evidence": [ { "id": "rs2148178601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178601" }, { "id": "rs2148178601", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178601" } ], "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 (NCS->NCG).", "chr_id": "2", "chr_pos": "29227027", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148178599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178599" }, { "id": "rs2148178599", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178599" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCI).", "chr_id": "2", "chr_pos": "29227026", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148178595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178595" }, { "id": "rs2148178595", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178595" }, { "id": "rs2148178601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178601" }, { "id": "rs2148178601", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178601" } ], "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 (NCS->NCR).", "chr_id": "2", "chr_pos": "29227025", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S988", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.974.974", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.986.986", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.993.993", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.994.994", "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": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1010.1010", "start_pos": 1010, "end_pos": 1010, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148178408", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178408", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148178408", "url": "https://www.ensembl.org/id/rs2148178408", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "CEVDECHMDPESHKVICFCD", "down_seq": "GTVLAEDGVSCIVSPTPEPH", "snv": [ { "evidence": [ { "id": "rs2148178408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178408" }, { "id": "rs2148178408", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178408" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HGT->NGT).", "chr_id": "2", "chr_pos": "29226961", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1010", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.993.993", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.994.994", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1022.1022", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.1026.1026", "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": "Q9UM73-1.1022.1022", "start_pos": 1022, "end_pos": 1022, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778643763", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778643763", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778643763", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778643763", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778643763", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778643763", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "HKVICFCDHGTVLAEDGVSC", "down_seq": "VSPTPEPHLPLSLILSVVTS", "snv": [ { "evidence": [ { "id": "rs778643763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778643763" }, { "id": "rs778643763", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778643763" }, { "id": "rs778643763", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778643763" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVS->NVS).", "chr_id": "2", "chr_pos": "29226924", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1022", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1010.1010", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1026.1026", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1036.1036", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1036.1036", "start_pos": 1036, "end_pos": 1036, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1663944377", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1663944377", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1663944377", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1663944377", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "EDGVSCIVSPTPEPHLPLSL", "down_seq": "LSVVTSALVAALVLAFSGIM", "snv": [ { "evidence": [ { "id": "rs1663944377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1663944377" }, { "id": "rs1663944377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1663944377" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "2", "chr_pos": "29225526", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1036", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1022.1022", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.1026.1026", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1054.1054", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1054.1054", "start_pos": 1054, "end_pos": 1054, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SLILSVVTSALVAALVLAFS", "down_seq": "IMIVYRRKHQELQAMQMELQ", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29225473", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1054", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1036.1036", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1079.1079", "start_pos": 1079, "end_pos": 1079, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148171025", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148171025", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148171025", "url": "https://www.ensembl.org/id/rs2148171025", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148171025", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148171025", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YRRKHQELQAMQMELQSPEY", "down_seq": "LSKLRTSTIMTDYNPNYCFA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148171025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148171025" }, { "id": "rs2148171025", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148171025" }, { "id": "rs2148171025", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148171025" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "2", "chr_pos": "29223464", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1079", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1078.1078", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.1096.1096", "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": "Q9UM73-1.1085.1085", "start_pos": 1085, "end_pos": 1085, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1460007760", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460007760", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1460007760", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460007760", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1460007760", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1460007760", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ELQAMQMELQSPEYKLSKLR", "down_seq": "STIMTDYNPNYCFAGKTSSI", "snv": [ { "evidence": [ { "id": "rs1460007760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460007760" }, { "id": "rs1460007760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460007760" }, { "id": "rs1460007760", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1460007760" } ], "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 (TST->NST).", "chr_id": "2", "chr_pos": "29223447", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1085", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.1078.1078", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1096.1096", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.1101.1101", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.1102.1102", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1088.1088", "start_pos": 1088, "end_pos": 1088, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148170945", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148170945", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148170945", "url": "https://www.ensembl.org/id/rs2148170945", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AMQMELQSPEYKLSKLRTST", "down_seq": "MTDYNPNYCFAGKTSSISDL", "snv": [ { "evidence": [ { "id": "rs2148170945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148170945" }, { "id": "rs2148170945", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148170945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IMT->NMT).", "chr_id": "2", "chr_pos": "29223438", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1088", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.1078.1078", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1096.1096", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.1101.1101", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1102.1102", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1101.1101", "start_pos": 1101, "end_pos": 1101, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148170829", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148170829", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SKLRTSTIMTDYNPNYCFAG", "down_seq": "TSSISDLKEVPRKNITLIRG", "snv": [ { "evidence": [ { "id": "rs2148170829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148170829" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "2", "chr_pos": "29223398", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1101", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.1096.1096", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1102.1102", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1120.1120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1102.1102", "start_pos": 1102, "end_pos": 1102, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1295561133", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295561133", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1295561133", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295561133#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KLRTSTIMTDYNPNYCFAGK", "down_seq": "SSISDLKEVPRKNITLIRGL", "snv": [ { "evidence": [ { "id": "rs1295561133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295561133" }, { "id": "rs1295561133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295561133#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "2", "chr_pos": "29223396", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1102", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1096.1096", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1101.1101", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1120.1120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1120.1120", "start_pos": 1120, "end_pos": 1120, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GKTSSISDLKEVPRKNITLI", "down_seq": "GLGHGAFGEVYEGQVSGMPN", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29223343", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1120", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1101.1101", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1102.1102", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1131.1131", "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": "Q9UM73-1.1142.1142", "start_pos": 1142, "end_pos": 1142, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1669833481", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1669833481", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1669833481", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1669833481", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1669833481", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1669833481", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LGHGAFGEVYEGQVSGMPND", "down_seq": "SPLQVAVKTLPEVCSEQDEL", "snv": [ { "evidence": [ { "id": "rs1669833481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1669833481" }, { "id": "rs1669833481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1669833481" } ], "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": "2", "chr_pos": "29222543", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1669833481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1669833481" }, { "id": "rs1669833481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1669833481" }, { "id": "rs1669833481", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1669833481" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDT).", "chr_id": "2", "chr_pos": "29222543", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1142", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1131.1131", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1161.1161", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1161.1161", "start_pos": 1161, "end_pos": 1161, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DPSPLQVAVKTLPEVCSEQD", "down_seq": "LDFLMEALIISKFNHQNIVR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29222378", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1161", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1142.1142", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.1170.1170", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1181.1181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1170.1170", "start_pos": 1170, "end_pos": 1170, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1553394197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553394197", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1553394197", "url": "https://www.ensembl.org/id/rs1553394197", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1553394197", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1553394197", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KTLPEVCSEQDELDFLMEAL", "down_seq": "ISKFNHQNIVRCIGVSLQSL", "snv": [ { "evidence": [ { "id": "rs1553394197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553394197" }, { "id": "rs1553394197", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553394197" }, { "id": "rs1553394197", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1553394197" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IIS->NIS).", "chr_id": "2", "chr_pos": "29222350", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1170", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.1161.1161", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1181.1181", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1188.1188", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1181.1181", "start_pos": 1181, "end_pos": 1181, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ELDFLMEALIISKFNHQNIV", "down_seq": "CIGVSLQSLPRFILLELMAG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "2", "chr_pos": "29220810", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1181", "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:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29220809", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1181", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1161.1161", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1170.1170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.1188.1188", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1200.1200", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1188.1188", "start_pos": 1188, "end_pos": 1188, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "ALIISKFNHQNIVRCIGVSL", "down_seq": "SLPRFILLELMAGGDLKSFL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29220789", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q1188", "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:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1170.1170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.1181.1181", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1200.1200", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1202.1202", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1200.1200", "start_pos": 1200, "end_pos": 1200, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VRCIGVSLQSLPRFILLELM", "down_seq": "GGDLKSFLRETRPRPSQPSS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "2", "chr_pos": "29220752", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1200", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1181.1181", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1188.1188", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1202.1202", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1214.1214", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1202.1202", "start_pos": 1202, "end_pos": 1202, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "CIGVSLQSLPRFILLELMAG", "down_seq": "DLKSFLRETRPRPSQPSSLA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "10", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient count (10/4799).", "chr_id": "2", "chr_pos": "29220747", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1202", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1188.1188", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1200.1200", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1214.1214", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1214.1214", "start_pos": 1214, "end_pos": 1214, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ILLELMAGGDLKSFLRETRP", "down_seq": "PSQPSSLAMLDLLHVARDIA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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 (7).", "chr_id": "2", "chr_pos": "29220710", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1214", "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:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID: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" } ] }, { "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1200.1200", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1202.1202", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1233.1233", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LLGPAPGVSWTAGSPAPAEA", "down_seq": "TLSRVLKGGSVRKLRRAKQL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920299", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R121", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1233.1233", "start_pos": 1233, "end_pos": 1233, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1669533889", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1669533889", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1669533889", "url": "https://www.ensembl.org/id/rs1669533889", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PRPSQPSSLAMLDLLHVARD", "down_seq": "ACGCQYLEENHFIHRDIAAR", "snv": [ { "evidence": [ { "id": "rs1669533889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1669533889" }, { "id": "rs1669533889", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1669533889" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IAC->NAC).", "chr_id": "2", "chr_pos": "29214029", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1233", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1214.1214", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1245.1245", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1245.1245", "start_pos": 1245, "end_pos": 1245, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs863225283", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs863225283", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs863225283", "url": "https://www.ensembl.org/id/rs863225283", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs863225283", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs863225283", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "DLLHVARDIACGCQYLEENH", "down_seq": "IHRDIAARNCLLTCPGPGRV", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs863225283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs863225283" }, { "id": "rs863225283", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs863225283" }, { "id": "rs863225283", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs863225283" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHF->NHC).", "chr_id": "2", "chr_pos": "29213993", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F1245", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1233.1233", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1322.1322", "start_pos": 1322, "end_pos": 1322, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148143576", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143576", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148143576", "url": "https://www.ensembl.org/id/rs2148143576", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MEGIFTSKTDTWSFGVLLWE", "down_seq": "FSLGYMPYPSKSNQEVLEFV", "snv": [ { "evidence": [ { "id": "rs2148143576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143576" }, { "id": "rs2148143576", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148143576" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IFS->NFS).", "chr_id": "2", "chr_pos": "29197650", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1322", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.1332.1332", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1332.1332", "start_pos": 1332, "end_pos": 1332, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148143467", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143467", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148143467", "url": "https://www.ensembl.org/id/rs2148143467", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148143467", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148143467", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TWSFGVLLWEIFSLGYMPYP", "down_seq": "KSNQEVLEFVTSGGRMDPPK", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148143467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143467" }, { "id": "rs2148143467", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148143467" }, { "id": "rs2148143467", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148143467" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "2", "chr_pos": "29197620", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1332", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.1322.1322", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1352.1352", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1352.1352", "start_pos": 1352, "end_pos": 1352, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148143244", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143244", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148143244", "url": "https://www.ensembl.org/id/rs2148143244", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148143244", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148143244", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SKSNQEVLEFVTSGGRMDPP", "down_seq": "NCPGPVYRIMTQCWQHQPED", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148143244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143244" }, { "id": "rs2148143244", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148143244" }, { "id": "rs2148143244", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148143244" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNC->NNC).", "chr_id": "2", "chr_pos": "29197559", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K1352", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1332.1332", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.1355.1355", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.1357.1357", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.1359.1359", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1363.1363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1355.1355", "start_pos": 1355, "end_pos": 1355, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148143213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143213", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148143213", "url": "https://www.ensembl.org/id/rs2148143213", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NQEVLEFVTSGGRMDPPKNC", "down_seq": "GPVYRIMTQCWQHQPEDRPN", "snv": [ { "evidence": [ { "id": "rs2148143213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143213" }, { "id": "rs2148143213", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148143213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "2", "chr_pos": "29197552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148143213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148143213" }, { "id": "rs2148143213", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148143213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCP->NCT).", "chr_id": "2", "chr_pos": "29197552", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1355", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.1352.1352", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1357.1357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1359.1359", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1363.1363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1357.1357", "start_pos": 1357, "end_pos": 1357, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EVLEFVTSGGRMDPPKNCPG", "down_seq": "VYRIMTQCWQHQPEDRPNFA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29197545", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1357", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.1352.1352", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1355.1355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1359.1359", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1363.1363", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1377.1377", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1363.1363", "start_pos": 1363, "end_pos": 1363, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1281050927", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281050927", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1281050927", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281050927", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TSGGRMDPPKNCPGPVYRIM", "down_seq": "QCWQHQPEDRPNFAIILERI", "snv": [ { "evidence": [ { "id": "rs1281050927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281050927" }, { "id": "rs1281050927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281050927" } ], "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 (TQC->NQC).", "chr_id": "2", "chr_pos": "29196846", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1363", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1352.1352", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1355.1355", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1357.1357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1359.1359", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1377.1377", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1377.1377", "start_pos": 1377, "end_pos": 1377, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148141798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148141798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148141798", "url": "https://www.ensembl.org/id/rs2148141798", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PVYRIMTQCWQHQPEDRPNF", "down_seq": "IILERIEYCTQDPDVINTAL", "snv": [ { "evidence": [ { "id": "rs2148141798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148141798" }, { "id": "rs2148141798", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148141798" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "2", "chr_pos": "29196805", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1377", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1357.1357", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1359.1359", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1363.1363", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1385.1385", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1396.1396", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1385.1385", "start_pos": 1385, "end_pos": 1385, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148141725", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148141725", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148141725", "url": "https://www.ensembl.org/id/rs2148141725", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CWQHQPEDRPNFAIILERIE", "down_seq": "CTQDPDVINTALPIEYGPLV", "snv": [ { "evidence": [ { "id": "rs2148141725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148141725" }, { "id": "rs2148141725", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148141725" } ], "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 (YCT->NCT).", "chr_id": "2", "chr_pos": "29196781", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1385", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1377.1377", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1396.1396", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.1398.1398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1396.1396", "start_pos": 1396, "end_pos": 1396, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201768549", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201768549", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201768549", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201768549", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201768549", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201768549", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201768549", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201768549#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201768549", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201768549", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs201768549", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201768549", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FAIILERIEYCTQDPDVINT", "down_seq": "LPIEYGPLVEEEEKVPVRPK", "snv": [ { "evidence": [ { "id": "rs201768549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201768549" }, { "id": "rs201768549", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201768549" }, { "id": "rs201768549", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201768549" }, { "id": "rs201768549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201768549#frequency_tab" }, { "id": "rs201768549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201768549" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTS).", "chr_id": "2", "chr_pos": "29193901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs201768549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201768549" }, { "id": "rs201768549", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201768549" }, { "id": "rs201768549", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201768549" }, { "id": "rs201768549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201768549#frequency_tab" }, { "id": "rs201768549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201768549" }, { "id": "rs201768549", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201768549" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "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": "29193901", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1396", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1377.1377", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1385.1385", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1398.1398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1398.1398", "start_pos": 1398, "end_pos": 1398, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IILERIEYCTQDPDVINTAL", "down_seq": "IEYGPLVEEEEKVPVRPKDP", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "29193894", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1398", "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:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.1385.1385", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1396.1396", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1419.1419", "start_pos": 1419, "end_pos": 1419, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IEYGPLVEEEEKVPVRPKDP", "down_seq": "GVPPLLVSQQAKREEERSPA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "29193832", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1419", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.1436.1436", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1436.1436", "start_pos": 1436, "end_pos": 1436, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KDPEGVPPLLVSQQAKREEE", "down_seq": "SPAAPPPLPTTSSGKAAKKP", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "29193781", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1436", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29193780", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1436", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.1419.1419", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.1446.1446", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1446.1446", "start_pos": 1446, "end_pos": 1446, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1668948533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668948533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1668948533", "url": "https://www.ensembl.org/id/rs1668948533", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VSQQAKREEERSPAAPPPLP", "down_seq": "TSSGKAAKKPTAAEISVRVP", "snv": [ { "evidence": [ { "id": "rs1668948533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668948533" }, { "id": "rs1668948533", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668948533" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "2", "chr_pos": "29193750", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1446", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.1436.1436", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1464.1464", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1464.1464", "start_pos": 1464, "end_pos": 1464, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LPTTSSGKAAKKPTAAEISV", "down_seq": "VPRGPAVEGGHVNMAFSQSN", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29193697", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1464", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1446.1446", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.1479.1479", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1479.1479", "start_pos": 1479, "end_pos": 1479, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148138337", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138337", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148138337", "url": "https://www.ensembl.org/id/rs2148138337", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148138337", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148138337", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AEISVRVPRGPAVEGGHVNM", "down_seq": "FSQSNPPSELHKVHGSRNKP", "snv": [ { "evidence": [ { "id": "rs2148138337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138337" }, { "id": "rs2148138337", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138337" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "2", "chr_pos": "29193652", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148138337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138337" }, { "id": "rs2148138337", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138337" }, { "id": "rs2148138337", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148138337" } ], "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: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "2", "chr_pos": "29193652", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1479", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.1464.1464", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1487.1487", "start_pos": 1487, "end_pos": 1487, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RGPAVEGGHVNMAFSQSNPP", "down_seq": "ELHKVHGSRNKPTSLWNPTY", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29193627", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1487", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1479.1479", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1491.1491", "start_pos": 1491, "end_pos": 1491, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VEGGHVNMAFSQSNPPSELH", "down_seq": "VHGSRNKPTSLWNPTYGSWF", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29193615", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K1491", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1479.1479", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1493.1493", "start_pos": 1493, "end_pos": 1493, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148138178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138178", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148138178", "url": "https://www.ensembl.org/id/rs2148138178", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148138178", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148138178", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GGHVNMAFSQSNPPSELHKV", "down_seq": "GSRNKPTSLWNPTYGSWFTE", "snv": [ { "evidence": [ { "id": "rs2148138178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138178" }, { "id": "rs2148138178", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138178" }, { "id": "rs2148138178", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148138178" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HGS->NGS).", "chr_id": "2", "chr_pos": "29193610", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1493", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1479.1479", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1499.1499", "start_pos": 1499, "end_pos": 1499, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148138113", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138113", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148138113", "url": "https://www.ensembl.org/id/rs2148138113", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AFSQSNPPSELHKVHGSRNK", "down_seq": "TSLWNPTYGSWFTEKPTKKN", "snv": [ { "evidence": [ { "id": "rs2148138113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138113" }, { "id": "rs2148138113", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138113" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "2", "chr_pos": "29193592", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1499", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1479.1479", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1505.1505", "start_pos": 1505, "end_pos": 1505, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148138058", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138058", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148138058", "url": "https://www.ensembl.org/id/rs2148138058", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PPSELHKVHGSRNKPTSLWN", "down_seq": "TYGSWFTEKPTKKNNPIAKK", "snv": [ { "evidence": [ { "id": "rs2148138058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138058" }, { "id": "rs2148138058", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138058" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NAT).", "chr_id": "2", "chr_pos": "29193574", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "2", "chr_pos": "29193573", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1505", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2148138058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138058" }, { "id": "rs2148138058", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138058" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "2", "chr_pos": "29193574", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148138058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148138058" }, { "id": "rs2148138058", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148138058" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NTT).", "chr_id": "2", "chr_pos": "29193574", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1505", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.1521.1521", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9UM73-1.1506.1506", "start_pos": 1506, "end_pos": 1506, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSELHKVHGSRNKPTSLWNP", "down_seq": "YGSWFTEKPTKKNNPIAKKE", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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 (5).", "chr_id": "2", "chr_pos": "29193570", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1506", "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:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1487.1487", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.1491.1491", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.1493.1493", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.1499.1499", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.1521.1521", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1521.1521", "start_pos": 1521, "end_pos": 1521, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1216631957", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216631957", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1216631957", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216631957", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SLWNPTYGSWFTEKPTKKNN", "down_seq": "IAKKEPHDRGNLGLEGSCTV", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1216631957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216631957" }, { "id": "rs1216631957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216631957" } ], "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 (NNP->NNS).", "chr_id": "2", "chr_pos": "29193526", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1521", "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": "rs1216631957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216631957" }, { "id": "rs1216631957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216631957" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNP->NNT).", "chr_id": "2", "chr_pos": "29193526", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1521", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.1505.1505", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.1506.1506", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1507.1507", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.1538.1538", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1538.1538", "start_pos": 1538, "end_pos": 1538, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1553386937", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553386937", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1553386937", "url": "https://www.ensembl.org/id/rs1553386937", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KNNPIAKKEPHDRGNLGLEG", "down_seq": "CTVPPNVATGRLPGASLLLE", "snv": [ { "evidence": [ { "id": "rs1553386937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553386937" }, { "id": "rs1553386937", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553386937" } ], "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 (SCT->NCT).", "chr_id": "2", "chr_pos": "29193474", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1538", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.1521.1521", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1546.1546", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1546.1546", "start_pos": 1546, "end_pos": 1546, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1668930591", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668930591", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1668930591", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1668930591", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EPHDRGNLGLEGSCTVPPNV", "down_seq": "TGRLPGASLLLEPSSLTANM", "snv": [ { "evidence": [ { "id": "rs1668930591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668930591" }, { "id": "rs1668930591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1668930591" } ], "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": "2", "chr_pos": "29193451", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1668930591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668930591" }, { "id": "rs1668930591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1668930591" } ], "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": "2", "chr_pos": "29193451", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1546", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1538.1538", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1564.1564", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1564.1564", "start_pos": 1564, "end_pos": 1564, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NVATGRLPGASLLLEPSSLT", "down_seq": "NMKEVPLFRLRHFPCGNVNY", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29193397", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1564", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1546.1546", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1575.1575", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.1583.1583", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1584.1584", "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": "Q9UM73-1.1575.1575", "start_pos": 1575, "end_pos": 1575, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LLLEPSSLTANMKEVPLFRL", "down_seq": "HFPCGNVNYGYQQQGLPLEA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "10", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient count (10/3601).", "chr_id": "2", "chr_pos": "29193363", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1575", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1564.1564", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.1583.1583", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.1584.1584", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.1585.1585", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1583.1583", "start_pos": 1583, "end_pos": 1583, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751677905", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751677905", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751677905", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751677905", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751677905", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751677905#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751677905", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751677905", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs751677905", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751677905", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TANMKEVPLFRLRHFPCGNV", "down_seq": "YGYQQQGLPLEAATAPGAGH", "snv": [ { "evidence": [ { "id": "rs751677905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751677905" }, { "id": "rs751677905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751677905" }, { "id": "rs751677905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751677905#frequency_tab" }, { "id": "rs751677905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751677905" }, { "id": "rs751677905", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751677905" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "2", "chr_pos": "29193339", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1583", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs751677905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751677905" }, { "id": "rs751677905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751677905" }, { "id": "rs751677905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751677905#frequency_tab" }, { "id": "rs751677905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751677905" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVT).", "chr_id": "2", "chr_pos": "29193339", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1583", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.1564.1564", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1575.1575", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1584.1584", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.1585.1585", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.1612.1612", "start_pos": 1612, "end_pos": 1612, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs78174819", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78174819", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs78174819", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78174819", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs78174819", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78174819", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs78174819", "url": "https://www.ncbi.nlm.nih.gov/snp/rs78174819#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs78174819", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78174819", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs78174819", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78174819", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PLEAATAPGAGHYEDTILKS", "down_seq": "NSMNQPGP", "snv": [ { "evidence": [ { "id": "rs78174819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78174819" }, { "id": "rs78174819", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78174819" }, { "id": "rs78174819", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78174819" }, { "id": "rs78174819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs78174819#frequency_tab" }, { "id": "rs78174819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78174819" }, { "id": "rs78174819", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78174819" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "2", "chr_pos": "29193251", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1612", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1604.1604", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.1615.1615", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1618.1618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1615.1615", "start_pos": 1615, "end_pos": 1615, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1668918393", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668918393", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1668918393", "url": "https://www.ensembl.org/id/rs1668918393", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "AATAPGAGHYEDTILKSKNS", "down_seq": "NQPGP", "snv": [ { "evidence": [ { "id": "rs1668918393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668918393" }, { "id": "rs1668918393", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668918393" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "2", "chr_pos": "29193243", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1615", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1604.1604", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.1618.1618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1618.1618", "start_pos": 1618, "end_pos": 1618, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1668918068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668918068", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1668918068", "url": "https://www.ensembl.org/id/rs1668918068", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "APGAGHYEDTILKSKNSMNQ", "down_seq": "GP", "snv": [ { "evidence": [ { "id": "rs1668918068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668918068" }, { "id": "rs1668918068", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668918068" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "2", "chr_pos": "29193235", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1668918068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668918068" }, { "id": "rs1668918068", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668918068" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQP->NQT).", "chr_id": "2", "chr_pos": "29193235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1618", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1604.1604", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.1615.1615", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LVLELGEEAILEGCVGPPGE", "down_seq": "AVGLLQFNLSELFSWWIRQG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920178", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A161", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LGEEAILEGCVGPPGEAAVG", "down_seq": "LQFNLSELFSWWIRQGEGRL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920167", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L165", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "EAILEGCVGPPGEAAVGLLQ", "down_seq": "NLSELFSWWIRQGEGRLRIR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920158", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F168", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148443103", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148443103", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148443103", "url": "https://www.ensembl.org/id/rs2148443103", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ILEGCVGPPGEAAVGLLQFN", "down_seq": "SELFSWWIRQGEGRLRIRLM", "snv": [ { "evidence": [ { "id": "rs2148443103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148443103" }, { "id": "rs2148443103", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148443103" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NPS).", "chr_id": "2", "chr_pos": "29920151", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L170", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148443096", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148443096", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148443096", "url": "https://www.ensembl.org/id/rs2148443096", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs753403262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403262", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753403262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403262", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753403262", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753403262", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs534035801", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534035801", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs534035801", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534035801", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs534035801", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534035801", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs534035801", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534035801#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs534035801", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534035801", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEGCVGPPGEAAVGLLQFNL", "down_seq": "ELFSWWIRQGEGRLRIRLMP", "snv": [ { "evidence": [ { "id": "rs2148443096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148443096" }, { "id": "rs2148443096", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148443096" } ], "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 (NLS->NLG).", "chr_id": "2", "chr_pos": "29920149", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753403262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403262" }, { "id": "rs753403262", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403262" }, { "id": "rs753403262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753403262" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLI).", "chr_id": "2", "chr_pos": "29920148", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753403262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403262" }, { "id": "rs753403262", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403262" }, { "id": "rs753403262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753403262" } ], "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": "2", "chr_pos": "29920148", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs534035801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534035801" }, { "id": "rs534035801", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534035801" }, { "id": "rs534035801", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534035801" }, { "id": "rs534035801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534035801#frequency_tab" }, { "id": "rs534035801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534035801" } ], "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": "2", "chr_pos": "29920147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9UM73-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GEAAVGLLQFNLSELFSWWI", "down_seq": "QGEGRLRIRLMPEKKASEVG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29920124", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R179", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.182.182", "start_pos": 182, "end_pos": 182, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "AVGLLQFNLSELFSWWIRQG", "down_seq": "GRLRIRLMPEKKASEVGREG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29920116", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E182", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.201.201", "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": "Q9UM73-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SWWIRQGEGRLRIRLMPEKK", "down_seq": "SEVGREGRLSAAIRASQPRL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920076", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A195", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.214.214", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GEGRLRIRLMPEKKASEVGR", "down_seq": "GRLSAAIRASQPRLLFQIFG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "29920059", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E201", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.214.214", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RIRLMPEKKASEVGREGRLS", "down_seq": "AIRASQPRLLFQIFGTGHSS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920044", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A206", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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 (5).", "chr_id": "2", "chr_pos": "29920043", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A206", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.224.224", "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": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q9UM73-1.209.209", "start_pos": 209, "end_pos": 209, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LMPEKKASEVGREGRLSAAI", "down_seq": "ASQPRLLFQIFGTGHSSLES", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920035", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R209", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.224.224", "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": "Q9UM73-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MPEKKASEVGREGRLSAAIR", "down_seq": "SQPRLLFQIFGTGHSSLESP", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29920032", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A210", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.224.224", "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": "Q9UM73-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KASEVGREGRLSAAIRASQP", "down_seq": "LLFQIFGTGHSSLESPTNMP", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29920019", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R214", "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": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.234.234", "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": "Q9UM73-1.224.224", "start_pos": 224, "end_pos": 224, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1407129567", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407129567", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1407129567", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1407129567#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1407129567", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407129567", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LSAAIRASQPRLLFQIFGTG", "down_seq": "SSLESPTNMPSPSPDYFTWN", "snv": [ { "evidence": [ { "id": "rs1407129567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407129567" }, { "id": "rs1407129567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1407129567#frequency_tab" }, { "id": "rs1407129567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407129567" } ], "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": "29717695", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H224", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.244.244", "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": "Q9UM73-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GAIGLLWLLPLLLSTAAVGS", "down_seq": "MGTGQRAGSPAAGPPLQPRE", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920596", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G22", "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:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.28.28", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1060500209", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1060500209", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1060500209", "url": "https://www.ensembl.org/id/rs1060500209", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RLLFQIFGTGHSSLESPTNM", "down_seq": "SPSPDYFTWNLTWIMKDSFP", "snv": [ { "evidence": [ { "id": "rs1060500209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1060500209" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMP->NMS).", "chr_id": "2", "chr_pos": "29717665", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P234", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1060500209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1060500209" }, { "id": "rs1060500209", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1060500209" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMP->NMT).", "chr_id": "2", "chr_pos": "29717665", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P234", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.244.244", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.246.246", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1573580119", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573580119", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1573580119", "url": "https://www.ensembl.org/id/rs1573580119", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLESPTNMPSPSPDYFTWNL", "down_seq": "WIMKDSFPFLSHRSRYGLEC", "snv": [ { "evidence": [ { "id": "rs1573580119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573580119" }, { "id": "rs1573580119", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1573580119" } ], "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 (NLT->NLP).", "chr_id": "2", "chr_pos": "29717629", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T246", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.244.244", "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": "Q9UM73-1.286.286", "start_pos": 286, "end_pos": 286, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1678509973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1678509973", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1678509973", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1678509973#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1678509973", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1678509973", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "CSFDFPCELEYSPPLHDLRN", "down_seq": "SWSWRRIPSEEASQMDLLDG", "snv": [ { "evidence": [ { "id": "rs1678509973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1678509973" }, { "id": "rs1678509973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1678509973#frequency_tab" }, { "id": "rs1678509973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1678509973" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->NPS).", "chr_id": "2", "chr_pos": "29694945", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q286", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "WLLPLLLSTAAVGSGMGTGQ", "down_seq": "AGSPAAGPPLQPREPLSYSR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "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": "29920578", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R28", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.47.47", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.48.52", "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": "Q9UM73-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PCELEYSPPLHDLRNQSWSW", "down_seq": "RIPSEEASQMDLLDGPGAER", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "7", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29694931", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R291", "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: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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29694930", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R291", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CELEYSPPLHDLRNQSWSWR", "down_seq": "IPSEEASQMDLLDGPGAERS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29694928", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R292", "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: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: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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29694927", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R292", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LEYSPPLHDLRNQSWSWRRI", "down_seq": "SEEASQMDLLDGPGAERSKE", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29694922", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P294", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YSPPLHDLRNQSWSWRRIPS", "down_seq": "EASQMDLLDGPGAERSKEMP", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "29694916", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E296", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "HDLRNQSWSWRRIPSEEASQ", "down_seq": "DLLDGPGAERSKEMPRGSFL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29694899", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M301", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.285.285", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.296.296", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs778028653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778028653", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778028653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778028653", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778028653", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778028653", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GPGAERSKEMPRGSFLLLNT", "down_seq": "ADSKHTILSPWMRSSSEHCT", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->NT*).", "chr_id": "2", "chr_pos": "29532092", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S326", "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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs778028653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778028653" }, { "id": "rs778028653", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778028653" }, { "id": "rs778028653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778028653" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->NTL).", "chr_id": "2", "chr_pos": "29532092", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S326", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.324.324", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.344.344", "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": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q9UM73-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1247687646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247687646", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ERSKEMPRGSFLLLNTSADS", "down_seq": "HTILSPWMRSSSEHCTLAVS", "snv": [ { "evidence": [ { "id": "rs1247687646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247687646" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KHT->NHT).", "chr_id": "2", "chr_pos": "29532079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K330", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.324.324", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.350.350", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KEMPRGSFLLLNTSADSKHT", "down_seq": "LSPWMRSSSEHCTLAVSVHR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "2", "chr_pos": "29532071", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I333", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.324.324", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.350.350", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148158722", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148158722", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148158722", "url": "https://www.ensembl.org/id/rs2148158722", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FLLLNTSADSKHTILSPWMR", "down_seq": "SSEHCTLAVSVHRHLQPSGR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148158722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148158722" }, { "id": "rs2148158722", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148158722" } ], "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 (SSS->NSS).", "chr_id": "2", "chr_pos": "29532050", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S340", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.324.324", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.350.350", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LNTSADSKHTILSPWMRSSS", "down_seq": "HCTLAVSVHRHLQPSGRYIA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29532042", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E343", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.324.324", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.350.350", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.344.344", "start_pos": 344, "end_pos": 344, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1286011012", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286011012", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1286011012", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286011012", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NTSADSKHTILSPWMRSSSE", "down_seq": "CTLAVSVHRHLQPSGRYIAQ", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1286011012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286011012" }, { "id": "rs1286011012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286011012" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HCT->NCT).", "chr_id": "2", "chr_pos": "29532039", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H344", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.324.324", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.350.350", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.349.349", "start_pos": 349, "end_pos": 349, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "SKHTILSPWMRSSSEHCTLA", "down_seq": "SVHRHLQPSGRYIAQLLPHN", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29532024", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V349", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.350.350", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.350.350", "start_pos": 350, "end_pos": 350, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KHTILSPWMRSSSEHCTLAV", "down_seq": "VHRHLQPSGRYIAQLLPHNE", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29532020", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S350", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs149968229", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149968229", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149968229", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149968229", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs149968229", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149968229", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149968229", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149968229#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149968229", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149968229", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VHRHLQPSGRYIAQLLPHNE", "down_seq": "AREILLMPTPGKHGWTVLQG", "snv": [ { "evidence": [ { "id": "rs149968229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149968229" }, { "id": "rs149968229", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149968229" }, { "id": "rs149968229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149968229" }, { "id": "rs149968229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149968229#frequency_tab" }, { "id": "rs149968229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149968229" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEA->NES).", "chr_id": "2", "chr_pos": "29531958", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs149968229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149968229" }, { "id": "rs149968229", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149968229" }, { "id": "rs149968229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149968229" }, { "id": "rs149968229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149968229#frequency_tab" }, { "id": "rs149968229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149968229" } ], "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 (NEA->NET).", "chr_id": "2", "chr_pos": "29531958", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A371", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.380.380", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ILLMPTPGKHGWTVLQGRIG", "down_seq": "PDNPFRVALEYISSGNRSLS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29383831", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R395", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "2", "chr_pos": "29383830", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R395", "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: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:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29383831", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R395", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.380.380", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9UM73-1.406.406", "start_pos": 406, "end_pos": 406, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148301625", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301625", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148301625", "url": "https://www.ensembl.org/id/rs2148301625", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2148301625", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148301625", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "WTVLQGRIGRPDNPFRVALE", "down_seq": "ISSGNRSLSAVDFFALKNCS", "snv": [ { "evidence": [ { "id": "rs2148301625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301625" }, { "id": "rs2148301625", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301625" }, { "id": "rs2148301625", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2148301625" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YIS->NIS).", "chr_id": "2", "chr_pos": "29383798", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y406", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": "Q9UM73-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148301610", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301610", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148301610", "url": "https://www.ensembl.org/id/rs2148301610", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TVLQGRIGRPDNPFRVALEY", "down_seq": "SSGNRSLSAVDFFALKNCSE", "snv": [ { "evidence": [ { "id": "rs2148301610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148301610" }, { "id": "rs2148301610", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148301610" } ], "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": "2", "chr_pos": "29383794", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I407", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": "Q9UM73-1.408.408", "start_pos": 408, "end_pos": 408, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VLQGRIGRPDNPFRVALEYI", "down_seq": "SGNRSLSAVDFFALKNCSEG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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: num. of cancers (3).", "chr_id": "2", "chr_pos": "29383791", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S408", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.426.426", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.410.410", "start_pos": 410, "end_pos": 410, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QGRIGRPDNPFRVALEYISS", "down_seq": "NRSLSAVDFFALKNCSEGTS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29383786", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G410", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.426.426", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1388736375", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388736375", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1388736375", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388736375#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1388736375", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388736375", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIGRPDNPFRVALEYISSGN", "down_seq": "SLSAVDFFALKNCSEGTSPG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29383780", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R412", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "rs1388736375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388736375" }, { "id": "rs1388736375", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388736375#frequency_tab" }, { "id": "rs1388736375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388736375" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->NPS).", "chr_id": "2", "chr_pos": "29383779", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R412", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q9UM73-1.423.423", "start_pos": 423, "end_pos": 423, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1370402590", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370402590", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1370402590", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370402590#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1370402590", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1370402590", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1370402590", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370402590", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ALEYISSGNRSLSAVDFFAL", "down_seq": "NCSEGTSPGSKMALQSSFTC", "snv": [ { "evidence": [ { "id": "rs1370402590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370402590" }, { "id": "rs1370402590", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370402590#frequency_tab" }, { "id": "rs1370402590", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1370402590" }, { "id": "rs1370402590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370402590" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNC->NNC).", "chr_id": "NC_000002.12", "chr_pos": "29383745", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "0.000010", "site_lbl": "K423", "keywords": [ "ebi", "somatic", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.426.426", "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": "Q9UM73-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1558300778", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558300778", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1558300778", "url": "https://www.ensembl.org/id/rs1558300778", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs111796753", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111796753", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs111796753", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs111796753", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs111796753", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111796753", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs111796753", "url": "https://www.ncbi.nlm.nih.gov/snp/rs111796753#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs111796753", "url": "http://gnomad.broadinstitute.org/awesome?query=rs111796753", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1260498868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260498868", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1260498868", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260498868", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1260498868", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1260498868", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YISSGNRSLSAVDFFALKNC", "down_seq": "EGTSPGSKMALQSSFTCWNG", "snv": [ { "evidence": [ { "id": "rs1558300778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558300778" }, { "id": "rs1558300778", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1558300778" } ], "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 (NCS->NCG).", "chr_id": "2", "chr_pos": "29383738", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs111796753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111796753" }, { "id": "rs111796753", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs111796753" }, { "id": "rs111796753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111796753" }, { "id": "rs111796753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs111796753#frequency_tab" }, { "id": "rs111796753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs111796753" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCI).", "chr_id": "2", "chr_pos": "29383737", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S426", "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": "rs1260498868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260498868" }, { "id": "rs1260498868", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260498868" }, { "id": "rs1260498868", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1260498868" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCR).", "chr_id": "2", "chr_pos": "29383736", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S426", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.424.424", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.445.445", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "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": "Q9UM73-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MGTGQRAGSPAAGPPLQPRE", "down_seq": "LSYSRLQRKSLAVDFVVPSL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "12", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: patient count (12/4484).", "chr_id": "2", "chr_pos": "29920533", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P43", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.47.47", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.48.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.447.447", "start_pos": 447, "end_pos": 447, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2465459531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465459531", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EGTSPGSKMALQSSFTCWNG", "down_seq": "VLQLGQACDFHQDCAQGEDE", "snv": [ { "evidence": [ { "id": "rs2465459531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465459531" } ], "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 (NGT->NGK).", "chr_id": "2", "chr_pos": "29328424", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T447", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.445.445", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.466.466", "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": "Q9UM73-1.452.452", "start_pos": 452, "end_pos": 452, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GSKMALQSSFTCWNGTVLQL", "down_seq": "QACDFHQDCAQGEDESQMCR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29328410", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G452", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.445.445", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.466.466", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148443832", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148443832", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148443832", "url": "https://www.ensembl.org/id/rs2148443832", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TGQRAGSPAAGPPLQPREPL", "down_seq": "YSRLQRKSLAVDFVVPSLFR", "snv": [ { "evidence": [ { "id": "rs2148443832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148443832" }, { "id": "rs2148443832", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148443832" } ], "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": "2", "chr_pos": "29920526", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S45", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.47.47", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.48.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.62.62", "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": "Q9UM73-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1667337818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1667337818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1667337818", "url": "https://www.ensembl.org/id/rs1667337818", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1667337818", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1667337818", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GTVLQLGQACDFHQDCAQGE", "down_seq": "ESQMCRKLPVGFYCNFEDGF", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1667337818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1667337818" }, { "id": "rs1667337818", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1667337818" }, { "id": "rs1667337818", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1667337818" } ], "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 (DES->NES).", "chr_id": "2", "chr_pos": "29328368", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D466", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.452.452", "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": "Q9UM73-1.509.509", "start_pos": 509, "end_pos": 509, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "WTQGTLSPHTPQWQVRTLKD", "down_seq": "RFQDHQDHALLLSTTDVPAS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29320771", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A509", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.522.522", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.522.522", "start_pos": 522, "end_pos": 522, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1553409333", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553409333", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1553409333", "url": "https://www.ensembl.org/id/rs1553409333", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QVRTLKDARFQDHQDHALLL", "down_seq": "TTDVPASESATVTSATFPAP", "snv": [ { "evidence": [ { "id": "rs1553409333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553409333" }, { "id": "rs1553409333", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553409333" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "2", "chr_pos": "29318386", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S522", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.536.536", "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": "Q9UM73-1.531.531", "start_pos": 531, "end_pos": 531, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148248149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148248149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148248149", "url": "https://www.ensembl.org/id/rs2148248149", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FQDHQDHALLLSTTDVPASE", "down_seq": "ATVTSATFPAPIKSSPCELR", "snv": [ { "evidence": [ { "id": "rs2148248149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148248149" }, { "id": "rs2148248149", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148248149" } ], "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 (SAT->NAT).", "chr_id": "2", "chr_pos": "29318359", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S531", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.551.551", "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": "Q9UM73-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DHALLLSTTDVPASESATVT", "down_seq": "ATFPAPIKSSPCELRMSWLI", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "2", "chr_pos": "29318344", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S536", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.551.551", "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": "Q9UM73-1.543.543", "start_pos": 543, "end_pos": 543, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1666893671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666893671", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1666893671", "url": "https://www.ensembl.org/id/rs1666893671", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TTDVPASESATVTSATFPAP", "down_seq": "KSSPCELRMSWLIRGVLRGN", "snv": [ { "evidence": [ { "id": "rs1666893671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666893671" }, { "id": "rs1666893671", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1666893671" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IKS->NKS).", "chr_id": "2", "chr_pos": "29318323", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I543", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.563.563", "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": "Q9UM73-1.544.544", "start_pos": 544, "end_pos": 544, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2148247985", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148247985", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148247985", "url": "https://www.ensembl.org/id/rs2148247985", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TDVPASESATVTSATFPAPI", "down_seq": "SSPCELRMSWLIRGVLRGNV", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2148247985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148247985" }, { "id": "rs2148247985", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148247985" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "5", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "2", "chr_pos": "29318319", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K544", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.563.563", "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": "Q9UM73-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SATVTSATFPAPIKSSPCEL", "down_seq": "MSWLIRGVLRGNVSLVLVEN", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29297053", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R551", "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:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.563.563", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.571.571", "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": "Q9UM73-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ATFPAPIKSSPCELRMSWLI", "down_seq": "GVLRGNVSLVLVENKTGKEQ", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "8", "frequency": "0.4", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29297036", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R557", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.563.563", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.565.565", "start_pos": 565, "end_pos": 565, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1666206625", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666206625", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1666206625", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1666206625#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1666206625", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1666206625", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSPCELRMSWLIRGVLRGNV", "down_seq": "LVLVENKTGKEQGRMVWHVA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1666206625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666206625" }, { "id": "rs1666206625", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1666206625#frequency_tab" }, { "id": "rs1666206625", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1666206625" } ], "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": "2", "chr_pos": "29297011", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S565", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVP).", "chr_id": "2", "chr_pos": "29297012", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S565", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.563.563", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.573.573", "start_pos": 573, "end_pos": 573, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1666205088", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666205088", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1666205088", "url": "https://www.ensembl.org/id/rs1666205088", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SWLIRGVLRGNVSLVLVENK", "down_seq": "GKEQGRMVWHVAAYEGLSLW", "snv": [ { "evidence": [ { "id": "rs1666205088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666205088" }, { "id": "rs1666205088", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1666205088" } ], "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 (NKT->NKI).", "chr_id": "2", "chr_pos": "29296987", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1666205088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1666205088" }, { "id": "rs1666205088", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1666205088" } ], "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 (NKT->NKN).", "chr_id": "2", "chr_pos": "29296987", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T573", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.563.563", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.586.586", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.593.593", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.574.574", "start_pos": 574, "end_pos": 574, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "WLIRGVLRGNVSLVLVENKT", "down_seq": "KEQGRMVWHVAAYEGLSLWQ", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29296985", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G574", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.563.563", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.586.586", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.593.593", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.585.585", "start_pos": 585, "end_pos": 585, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SLVLVENKTGKEQGRMVWHV", "down_seq": "AYEGLSLWQWMVLPLLDVSD", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29296952", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A585", "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:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.565.565", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.586.586", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.602.602", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.586.586", "start_pos": 586, "end_pos": 586, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LVLVENKTGKEQGRMVWHVA", "down_seq": "YEGLSLWQWMVLPLLDVSDR", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29296948", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A586", "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": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.571.571", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.602.602", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.593.593", "start_pos": 593, "end_pos": 593, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "TGKEQGRMVWHVAAYEGLSL", "down_seq": "QWMVLPLLDVSDRFWLQMVA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29296926", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W593", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.573.573", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.574.574", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.586.586", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.602.602", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.602.602", "start_pos": 602, "end_pos": 602, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1165866210", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165866210", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1165866210", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165866210#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1165866210", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1165866210", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1165866210", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165866210", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "WHVAAYEGLSLWQWMVLPLL", "down_seq": "VSDRFWLQMVAWWGQGSRAI", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1165866210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165866210" }, { "id": "rs1165866210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165866210#frequency_tab" }, { "id": "rs1165866210", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1165866210" }, { "id": "rs1165866210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165866210" } ], "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 (DVS->NVS).", "chr_id": "2", "chr_pos": "29296901", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D602", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.586.586", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.593.593", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.629.629", "start_pos": 629, "end_pos": 629, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2465332131", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465332131", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LQMVAWWGQGSRAIVAFDNI", "down_seq": "ISLDCYLTISGEDKILQNTA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs2465332131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465332131" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIP).", "chr_id": "2", "chr_pos": "29275429", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S629", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.627.627", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.649.649", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EPLSYSRLQRKSLAVDFVVP", "down_seq": "LFRVYARDLLLPPSSSELKA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "4", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29920475", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S62", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.47.47", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.48.52", "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": "Q9UM73-1.649.649", "start_pos": 649, "end_pos": 649, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148215141", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148215141", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148215141", "url": "https://www.ensembl.org/id/rs2148215141", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SISLDCYLTISGEDKILQNT", "down_seq": "PKSRNLFERNPNKELKPGEN", "snv": [ { "evidence": [ { "id": "rs2148215141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148215141" }, { "id": "rs2148215141", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148215141" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTS).", "chr_id": "2", "chr_pos": "29275195", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A649", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.629.629", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.656.656", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.656.656", "start_pos": 656, "end_pos": 656, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2465331415", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465331415", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LTISGEDKILQNTAPKSRNL", "down_seq": "ERNPNKELKPGENSPRQTPI", "snv": [ { "evidence": [ { "id": "rs2465331415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2465331415" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLF->NLS).", "chr_id": "2", "chr_pos": "29275173", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F656", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.649.649", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.671.671", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.671.671", "start_pos": 671, "end_pos": 671, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs145780832", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145780832", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145780832", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145780832", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs145780832", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145780832", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145780832", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145780832#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145780832", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145780832", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs145780832", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145780832", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KSRNLFERNPNKELKPGENS", "down_seq": "RQTPIFDPTVHWLFTTCGAS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs145780832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145780832" }, { "id": "rs145780832", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145780832" }, { "id": "rs145780832", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145780832" }, { "id": "rs145780832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145780832#frequency_tab" }, { "id": "rs145780832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145780832" }, { "id": "rs145780832", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145780832" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "2", "chr_pos": "29275129", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P671", "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" ] }, { "evidence": [ { "id": "rs145780832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145780832" }, { "id": "rs145780832", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145780832" }, { "id": "rs145780832", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145780832" }, { "id": "rs145780832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145780832#frequency_tab" }, { "id": "rs145780832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145780832" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "2", "chr_pos": "29275129", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P671", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.686.686", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.686.686", "start_pos": 686, "end_pos": 686, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs970215700", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970215700", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs970215700", "url": "https://www.ensembl.org/id/rs970215700", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGENSPRQTPIFDPTVHWLF", "down_seq": "TCGASGPHGPTQAQCNNAYQ", "snv": [ { "evidence": [ { "id": "rs970215700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970215700" }, { "id": "rs970215700", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs970215700" } ], "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 (TTC->NTC).", "chr_id": "2", "chr_pos": "29251252", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T686", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9UM73-1.671.671", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.705.705", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.692.692", "start_pos": 692, "end_pos": 692, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RQTPIFDPTVHWLFTTCGAS", "down_seq": "PHGPTQAQCNNAYQNSNLSV", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29251235", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G692", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.686.686", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs34829159", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34829159", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs34829159", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34829159", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs34829159", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34829159#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs34829159", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34829159", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs34829159", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34829159", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LFTTCGASGPHGPTQAQCNN", "down_seq": "YQNSNLSVEVGSEGPLKGIQ", "snv": [ { "evidence": [ { "id": "rs34829159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34829159" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNS).", "chr_id": "2", "chr_pos": "29251199", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A704", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs34829159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34829159" }, { "id": "rs34829159", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34829159" }, { "id": "rs34829159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34829159#frequency_tab" }, { "id": "rs34829159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34829159" }, { "id": "rs34829159", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34829159" } ], "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: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "2", "chr_pos": "29251199", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A704", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.686.686", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.717.717", "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": 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": "Q9UM73-1.705.705", "start_pos": 705, "end_pos": 705, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Differential expression and clinical significance of tyrosine-phosphorylated STAT3 in ALK+ and ALK- anaplastic large cell lymphoma.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2003", "authors": "Khoury JD, Medeiros LJ, Rassidakis GZ, Yared MA, Tsioli P, Leventaki V, Schmitt-Graeff A, Herling M, Amin HM, Lai R", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "14506160", "url": "https://glygen.org/publication/PubMed/14506160" } ] }, { "title": "TKI sensitivity patterns of novel kinase-domain mutations suggest therapeutic opportunities for patients with resistant ALK+ tumors.", "journal": "Oncotarget", "date": "2016", "authors": "Amin AD, Li L, Rajan SS, Gokhale V, Groysman MJ, Pongtornpipat P, Tapia EO, Wang M, Schatz JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717264" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "27009859", "url": "https://glygen.org/publication/PubMed/27009859" } ] } ], "crossref": [ { "id": "rs2148197485", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148197485", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148197485", "url": "https://www.ensembl.org/id/rs2148197485", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "14506160", "url": "https://glygen.org/publication/PubMed/14506160", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27009859", "url": "https://glygen.org/publication/PubMed/27009859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "FTTCGASGPHGPTQAQCNNA", "down_seq": "QNSNLSVEVGSEGPLKGIQI", "snv": [ { "evidence": [ { "id": "rs2148197485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148197485" }, { "id": "rs2148197485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148197485" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAY->NAC).", "chr_id": "2", "chr_pos": "29251195", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2148197485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148197485" }, { "id": "rs2148197485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148197485" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAY->NAS).", "chr_id": "2", "chr_pos": "29251195", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y705", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "14506160", "url": "https://glygen.org/publication/PubMed/14506160" }, { "database": "PubMed", "id": "27009859", "url": "https://glygen.org/publication/PubMed/27009859" } ], "site_lbl": "Tyr705" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.686.686", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.717.717", "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": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UM73-1.710.710", "start_pos": 710, "end_pos": 710, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1664807217", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664807217", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664807217", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1664807217#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ASGPHGPTQAQCNNAYQNSN", "down_seq": "SVEVGSEGPLKGIQIWKVPA", "snv": [ { "evidence": [ { "id": "rs1664807217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664807217" }, { "id": "rs1664807217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1664807217#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NPS).", "chr_id": "2", "chr_pos": "29251180", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L710", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.717.717", "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": "Q9UM73-1.711.711", "start_pos": 711, "end_pos": 711, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1166188112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166188112", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1166188112", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166188112#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1166188112", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166188112", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1664806936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664806936", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664806936", "url": "https://www.ensembl.org/id/rs1664806936", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs77102810", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77102810", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs77102810", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs77102810", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs77102810", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77102810", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs77102810", "url": "https://www.ncbi.nlm.nih.gov/snp/rs77102810#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs77102810", "url": "http://gnomad.broadinstitute.org/awesome?query=rs77102810", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGPHGPTQAQCNNAYQNSNL", "down_seq": "VEVGSEGPLKGIQIWKVPAT", "snv": [ { "evidence": [ { "id": "rs1166188112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166188112" }, { "id": "rs1166188112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166188112#frequency_tab" }, { "id": "rs1166188112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166188112" } ], "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 (NLS->NLG).", "chr_id": "2", "chr_pos": "29251178", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S711", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1664806936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664806936" }, { "id": "rs1664806936", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664806936" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLI).", "chr_id": "2", "chr_pos": "29251177", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S711", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLN).", "chr_id": "2", "chr_pos": "29251177", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S711", "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": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1166188112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166188112" }, { "id": "rs1166188112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166188112#frequency_tab" }, { "id": "rs1166188112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166188112" }, { "id": "rs77102810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77102810" }, { "id": "rs77102810", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs77102810" }, { "id": "rs77102810", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77102810" }, { "id": "rs77102810", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs77102810#frequency_tab" }, { "id": "rs77102810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs77102810" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "2", "chr_pos": "29251178", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S711", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.717.717", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.731.731", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9UM73-1.712.712", "start_pos": 712, "end_pos": 712, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GPHGPTQAQCNNAYQNSNLS", "down_seq": "EVGSEGPLKGIQIWKVPATD", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "29251175", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V712", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.692.692", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.717.717", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.731.731", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.717.717", "start_pos": 717, "end_pos": 717, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TQAQCNNAYQNSNLSVEVGS", "down_seq": "GPLKGIQIWKVPATDTYSIS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29251160", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E717", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.704.704", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.705.705", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.709.709", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.731.731", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.737.737", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.731.731", "start_pos": 731, "end_pos": 731, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1664804232", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664804232", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664804232", "url": "https://www.ensembl.org/id/rs1664804232", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SVEVGSEGPLKGIQIWKVPA", "down_seq": "DTYSISGYGAAGGKGGKNTM", "snv": [ { "evidence": [ { "id": "rs1664804232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664804232" }, { "id": "rs1664804232", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664804232" } ], "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 (TDT->NDT).", "chr_id": "2", "chr_pos": "29251117", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T731", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.712.712", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.717.717", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.737.737", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.747.747", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.735.735", "start_pos": 735, "end_pos": 735, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1664803687", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664803687", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664803687", "url": "https://www.ensembl.org/id/rs1664803687", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1664803687", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1664803687", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSEGPLKGIQIWKVPATDTY", "down_seq": "ISGYGAAGGKGGKNTMMRSH", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs1664803687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664803687" }, { "id": "rs1664803687", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664803687" }, { "id": "rs1664803687", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1664803687" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "2", "chr_pos": "29251105", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S735", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.717.717", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.731.731", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UM73-1.737.737", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UM73-1.747.747", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.753.753", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.737.737", "start_pos": 737, "end_pos": 737, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EGPLKGIQIWKVPATDTYSI", "down_seq": "GYGAAGGKGGKNTMMRSHGV", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29239825", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S737", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.717.717", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.731.731", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.747.747", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.753.753", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.747.747", "start_pos": 747, "end_pos": 747, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KVPATDTYSISGYGAAGGKG", "down_seq": "KNTMMRSHGVSVLGIFNLEK", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29239796", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G747", "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:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.731.731", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.737.737", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.753.753", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.753.753", "start_pos": 753, "end_pos": 753, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TYSISGYGAAGGKGGKNTMM", "down_seq": "SHGVSVLGIFNLEKDDMLYI", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29239777", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R753", "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:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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": "2", "chr_pos": "29239778", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R753", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.735.735", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.737.737", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.747.747", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": "Q9UM73-1.781.781", "start_pos": 781, "end_pos": 781, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs770435688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770435688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770435688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770435688", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770435688", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770435688", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs770435688", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770435688", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GIFNLEKDDMLYILVGQQGE", "down_seq": "ACPSTNQLIQKVCIGENNVI", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs770435688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770435688" }, { "id": "rs770435688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770435688" }, { "id": "rs770435688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770435688" }, { "id": "rs770435688", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770435688" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAC->NAC).", "chr_id": "2", "chr_pos": "29239694", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D781", "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", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.801.801", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.801.801", "start_pos": 801, "end_pos": 801, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DACPSTNQLIQKVCIGENNV", "down_seq": "EEEIRVNRSVHEWAGGGGGG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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 (NVI->NVT).", "chr_id": "2", "chr_pos": "29233650", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I801", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.808.808", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.810.810", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.810.810", "start_pos": 810, "end_pos": 810, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148184523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148184523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148184523", "url": "https://www.ensembl.org/id/rs2148184523", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1339678509", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339678509", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1339678509", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339678509", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs150292405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150292405", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150292405", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150292405", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs150292405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150292405", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150292405", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150292405#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150292405", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150292405", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IQKVCIGENNVIEEEIRVNR", "down_seq": "VHEWAGGGGGGGGATYVFKM", "snv": [ { "evidence": [ { "id": "rs2148184523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148184523" }, { "id": "rs2148184523", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148184523" } ], "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 (NRS->NRG).", "chr_id": "2", "chr_pos": "29233624", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S810", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339678509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339678509" }, { "id": "rs1339678509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339678509" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->NRN).", "chr_id": "2", "chr_pos": "29233623", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S810", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150292405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150292405" }, { "id": "rs150292405", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150292405" }, { "id": "rs150292405", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150292405" }, { "id": "rs150292405", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150292405#frequency_tab" }, { "id": "rs150292405", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150292405" } ], "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 (NRS->NRR).", "chr_id": "2", "chr_pos": "29233622", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S810", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.801.801", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.808.808", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.850.850", "start_pos": 850, "end_pos": 850, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MKDGVPVPLIIAAGGGGRAY", "down_seq": "AKTDTFHPERLENNSSVLGL", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29232388", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G850", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.859.859", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.863.863", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.864.864", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.866.866", "start_pos": 866, "end_pos": 866, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1553396171", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553396171", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs528844155", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528844155", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs528844155", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528844155", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs528844155", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528844155", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs528844155", "url": "https://www.ncbi.nlm.nih.gov/snp/rs528844155#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs528844155", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528844155", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs528844155", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528844155", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1553396171", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1553396171#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRAYGAKTDTFHPERLENNS", "down_seq": "VLGLNGNSGAAGGGGGWNDN", "snv": [ { "evidence": [ { "id": "rs1553396171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553396171" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSA).", "chr_id": "2", "chr_pos": "29232340", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs528844155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528844155" }, { "id": "rs528844155", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528844155" }, { "id": "rs528844155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528844155" }, { "id": "rs528844155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs528844155#frequency_tab" }, { "id": "rs528844155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528844155" }, { "id": "rs528844155", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528844155" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSL).", "chr_id": "2", "chr_pos": "29232339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S866", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1553396171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553396171" }, { "id": "rs1553396171", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1553396171#frequency_tab" } ], "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 (NSS->NSP).", "chr_id": "2", "chr_pos": "29232340", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S866", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.850.850", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.859.859", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.863.863", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.864.864", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.875.875", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UM73-1.885.885", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.886.886", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.875.875", "start_pos": 875, "end_pos": 875, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TFHPERLENNSSVLGLNGNS", "down_seq": "AAGGGGGWNDNTSLLWAGKS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29232313", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G875", "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: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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.859.859", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UM73-1.863.863", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.864.864", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.885.885", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.886.886", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.888.888", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.885.885", "start_pos": 885, "end_pos": 885, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs925802421", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925802421", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs925802421", "url": "http://gnomad.broadinstitute.org/awesome?query=rs925802421", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs925802421", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs925802421", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SSVLGLNGNSGAAGGGGGWN", "down_seq": "NTSLLWAGKSLQEGATGGHS", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" }, { "id": "rs925802421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925802421" }, { "id": "rs925802421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs925802421" }, { "id": "rs925802421", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs925802421" } ], "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 (DNT->NNT).", "chr_id": "2", "chr_pos": "29229046", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D885", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.865.865", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.866.866", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.875.875", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.886.886", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.888.888", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.888.888", "start_pos": 888, "end_pos": 888, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1664105397", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664105397", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664105397", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1664105397#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LGLNGNSGAAGGGGGWNDNT", "down_seq": "LLWAGKSLQEGATGGHSCPQ", "snv": [ { "evidence": [ { "id": "rs1664105397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664105397" }, { "id": "rs1664105397", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1664105397#frequency_tab" } ], "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 (NTS->NTF).", "chr_id": "2", "chr_pos": "29229036", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S888", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->NTY).", "chr_id": "2", "chr_pos": "29229036", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S888", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.875.875", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9UM73-1.885.885", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.886.886", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.922.922", "start_pos": 922, "end_pos": 922, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GGHSCPQAMKKWGWETRGGF", "down_seq": "GGGGGCSSGGGGGGYIGGNA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29228935", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G922", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.943.943", "start_pos": 943, "end_pos": 943, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGGGGCSSGGGGGGYIGGNA", "down_seq": "SNNDPEMDGEDGVSFISPLG", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "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: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "2", "chr_pos": "29227661", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A943", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.948.948", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.949.949", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.948.948", "start_pos": 948, "end_pos": 948, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764482518", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764482518", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764482518", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764482518", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764482518", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764482518", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "CSSGGGGGGYIGGNAASNND", "down_seq": "EMDGEDGVSFISPLGILYTP", "snv": [ { "evidence": [ { "id": "rs764482518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764482518" }, { "id": "rs764482518", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764482518" }, { "id": "rs764482518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764482518" } ], "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": "2", "chr_pos": "29227646", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDT).", "chr_id": "2", "chr_pos": "29227646", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P948", "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": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.943.943", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.949.949", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.966.966", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "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": "Q9UM73-1.949.949", "start_pos": 949, "end_pos": 949, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UM73", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SSGGGGGGYIGGNAASNNDP", "down_seq": "MDGEDGVSFISPLGILYTPA", "snv": [ { "evidence": [ { "id": "Q9UM73", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UM73" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "29227643", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E949", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9UM73-1.943.943", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.948.948", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.966.966", "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": "Q9UM73-1.993.993", "start_pos": 993, "end_pos": 993, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2148178548", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178548", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2148178548", "url": "https://www.ensembl.org/id/rs2148178548", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MEGHGEVNIKHYLNCSHCEV", "down_seq": "ECHMDPESHKVICFCDHGTV", "snv": [ { "evidence": [ { "id": "rs2148178548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148178548" }, { "id": "rs2148178548", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2148178548" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DEC->NEC).", "chr_id": "2", "chr_pos": "29227012", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D993", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.974.974", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.986.986", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.988.988", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.994.994", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UM73-1.1010.1010", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UM73-1.1078.1078", "start_pos": 1078, "end_pos": 1078, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "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": "VYRRKHQELQAMQMELQSPE", "down_seq": "KLSKLRTSTIMTDYNPNYCF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr1078" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1096.1096", "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": "Q9UM73-1.1092.1092", "start_pos": 1092, "end_pos": 1092, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ELQSPEYKLSKLRTSTIMTD", "down_seq": "NPNYCFAGKTSSISDLKEVP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr1092" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9UM73-1.1078.1078", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9UM73-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1096.1096", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UM73-1.1101.1101", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9UM73-1.1102.1102", "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": "Q9UM73-1.1096.1096", "start_pos": 1096, "end_pos": 1096, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Recruitment of insulin receptor substrate-1 and activation of NF-kappaB essential for midkine growth signaling through anaplastic lymphoma kinase.", "journal": "Oncogene", "date": "2007", "authors": "Kuo AH, Stoica GE, Riegel AT, Wellstein A", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "16878150", "url": "https://glygen.org/publication/PubMed/16878150" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16878150", "url": "https://glygen.org/publication/PubMed/16878150", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "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": "PEYKLSKLRTSTIMTDYNPN", "down_seq": "CFAGKTSSISDLKEVPRKNI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "16878150", "url": "https://glygen.org/publication/PubMed/16878150" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr1096" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UM73-1.1078.1078", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9UM73-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1085.1085", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9UM73-1.1088.1088", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1092.1092", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.1101.1101", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UM73-1.1102.1102", "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": "Q9UM73-1.1131.1131", "start_pos": 1131, "end_pos": 1131, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VPRKNITLIRGLGHGAFGEV", "down_seq": "EGQVSGMPNDPSPLQVAVKT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "site_lbl": "Tyr1131" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9UM73-1.1120.1120", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9UM73-1.1142.1142", "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": "Q9UM73-1.1278.1278", "start_pos": 1278, "end_pos": 1278, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity.", "journal": "Biochemistry", "date": "2005", "authors": "Donella-Deana A, Marin O, Cesaro L, Gunby RH, Ferrarese A, Coluccia AM, Tartari CJ, Mologni L, Scapozza L, Gambacorti-Passerini C, Pinna LA", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15938644", "url": "https://glygen.org/publication/PubMed/15938644" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family.", "journal": "The Biochemical journal", "date": "2012", "authors": "Artim SC, Mendrola JM, Lemmon MA", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "22992069", "url": "https://glygen.org/publication/PubMed/22992069" } ] }, { "title": "L1198F Mutation Resensitizes Crizotinib to ALK by Altering the Conformation of Inhibitor and ATP Binding Sites.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Li J, Sun R, Wu Y, Song M, Li J, Yang Q, Chen X, Bao J, Zhao Q", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "28245558", "url": "https://glygen.org/publication/PubMed/28245558" } ] }, { "title": "Molecular Modeling for Structural Insights Concerning the Activation Mechanisms of F1174L and R1275Q Mutations on Anaplastic Lymphoma Kinase.", "journal": "Molecules (Basel, Switzerland)", "date": "2018", "authors": "Jiang CH, Huang CX, Chen YJ, Chuang YC, Huang BY, Yang CN", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "30004444", "url": "https://glygen.org/publication/PubMed/30004444" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15938644", "url": "https://glygen.org/publication/PubMed/15938644", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22992069", "url": "https://glygen.org/publication/PubMed/22992069", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28245558", "url": "https://glygen.org/publication/PubMed/28245558", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30004444", "url": "https://glygen.org/publication/PubMed/30004444", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TCPGPGRVAKIGDFGMARDI", "down_seq": "RASYYRKGGCAMLPVKWMPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9UM73-1", "kinase_gene_name": "ALK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "15938644", "url": "https://glygen.org/publication/PubMed/15938644" } ], "site_lbl": "Tyr1278" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "PubMed", "id": "15938644", "url": "https://glygen.org/publication/PubMed/15938644" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "22992069", "url": "https://glygen.org/publication/PubMed/22992069" }, { "database": "PubMed", "id": "28245558", "url": "https://glygen.org/publication/PubMed/28245558" }, { "database": "PubMed", "id": "30004444", "url": "https://glygen.org/publication/PubMed/30004444" } ], "site_lbl": "Tyr1278" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1282.1282", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UM73-1.1283.1283", "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": 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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UM73-1.1282.1282", "start_pos": 1282, "end_pos": 1282, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ALK, the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase (LTK)", "journal": "Oncogene", "date": "1997", "authors": "Morris SW, Naeve C, Mathew P, James PL, Kirstein MN, Cui X, Witte DP", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "9174053", "url": "https://glygen.org/publication/PubMed/9174053" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "9174053", "url": "https://glygen.org/publication/PubMed/9174053", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PGRVAKIGDFGMARDIYRAS", "down_seq": "YRKGGCAMLPVKWMPPEAFM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9UM73-1", "kinase_gene_name": "ALK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "9174053", "url": "https://glygen.org/publication/PubMed/9174053" } ], "site_lbl": "Tyr1282" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1278.1278", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1283.1283", "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": "Q9UM73-1.1283.1283", "start_pos": 1283, "end_pos": 1283, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ALK, the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase (LTK)", "journal": "Oncogene", "date": "1997", "authors": "Morris SW, Naeve C, Mathew P, James PL, Kirstein MN, Cui X, Witte DP", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "9174053", "url": "https://glygen.org/publication/PubMed/9174053" } ] }, { "title": "Activation of Rac1 and the exchange factor Vav3 are involved in NPM-ALK signaling in anaplastic large cell lymphomas.", "journal": "Oncogene", "date": "2008", "authors": "Colomba A, Courilleau D, Ramel D, Billadeau DD, Espinos E, Delsol G, Payrastre B, Gaits-Iacovoni F", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "17998938", "url": "https://glygen.org/publication/PubMed/17998938" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "9174053", "url": "https://glygen.org/publication/PubMed/9174053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UM73", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UM73*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "17998938", "url": "https://glygen.org/publication/PubMed/17998938", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GRVAKIGDFGMARDIYRASY", "down_seq": "RKGGCAMLPVKWMPPEAFME", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9UM73-1", "kinase_gene_name": "ALK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "9174053", "url": "https://glygen.org/publication/PubMed/9174053" } ], "site_lbl": "Tyr1283" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IntAct", "id": "Q9UM73", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UM73*" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "17998938", "url": "https://glygen.org/publication/PubMed/17998938" } ], "site_lbl": "Tyr1283" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.1278.1278", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1282.1282", "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UM73-1.1359.1359", "start_pos": 1359, "end_pos": 1359, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "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": "LEFVTSGGRMDPPKNCPGPV", "down_seq": "RIMTQCWQHQPEDRPNFAII", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr1359" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UM73-1.1352.1352", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.1355.1355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.1357.1357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UM73-1.1363.1363", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9UM73-1.1377.1377", "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": "Q9UM73-1.1584.1584", "start_pos": 1584, "end_pos": 1584, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" }, { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" }, { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ANMKEVPLFRLRHFPCGNVN", "down_seq": "GYQQQGLPLEAATAPGAGHY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr1584" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9UM73-1.1564.1564", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UM73-1.1575.1575", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.1583.1583", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.1585.1585", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9UM73-1.1604.1604", "categories": [ "glycosylation_flag", "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": "Q9UM73-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PEKKASEVGREGRLSAAIRA", "down_seq": "QPRLLFQIFGTGHSSLESPT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ], "site_lbl": "Ser211" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UM73-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9UM73-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UM73-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UM73-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9UM73-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UM73-1.224.224", "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": "Q9UM73-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q9UM73-1", "length": 1620, "uniprot_id": "ALK_HUMAN", "protein_name": "ALK tyrosine kinase receptor", "refseq_ac": "NP_004295", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "gene_name": "ALK", "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UM73", "url": "https://www.uniprot.org/uniprotkb/Q9UM73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] } ], "crossref": [ { "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QRAGSPAAGPPLQPREPLSY", "down_seq": "RLQRKSLAVDFVVPSLFRVY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UM73", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UM73" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser47" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "864", "end_pos": "864" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "48", "end_pos": "52" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "966", "end_pos": "966" }, { "start_pos": "974", "end_pos": "974" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1585", "end_pos": "1585" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "865", "end_pos": "865" }, { "start_pos": "988", "end_pos": "988" }, { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1026", "end_pos": "1026" }, { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1054", "end_pos": "1054" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1088", "end_pos": "1088" }, { "start_pos": "1101", "end_pos": "1101" }, { "start_pos": "1102", "end_pos": "1102" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1161", "end_pos": "1161" }, { "start_pos": "1170", "end_pos": "1170" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1188", "end_pos": "1188" }, { "start_pos": "1200", "end_pos": "1200" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1214", "end_pos": "1214" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1322", "end_pos": "1322" }, { "start_pos": "1332", "end_pos": "1332" }, { "start_pos": "1352", "end_pos": "1352" }, { "start_pos": "1355", "end_pos": "1355" }, { "start_pos": "1357", "end_pos": "1357" }, { "start_pos": "1363", "end_pos": "1363" }, { "start_pos": "1377", "end_pos": "1377" }, { "start_pos": "1385", "end_pos": "1385" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "1398", "end_pos": "1398" }, { "start_pos": "1419", "end_pos": "1419" }, { "start_pos": "1436", "end_pos": "1436" }, { "start_pos": "1446", "end_pos": "1446" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "1479", "end_pos": "1479" }, { "start_pos": "1487", "end_pos": "1487" }, { "start_pos": "1491", "end_pos": "1491" }, { "start_pos": "1493", "end_pos": "1493" }, { "start_pos": "1499", "end_pos": "1499" }, { "start_pos": "1505", "end_pos": "1505" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1521", "end_pos": "1521" }, { "start_pos": "1538", "end_pos": "1538" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1583", "end_pos": "1583" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "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": "179", "end_pos": "179" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "573", "end_pos": "573" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "602", "end_pos": "602" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "649", "end_pos": "649" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "705", "end_pos": "705" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "737", "end_pos": "737" }, { "start_pos": "747", "end_pos": "747" }, { "start_pos": "753", "end_pos": "753" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "859", "end_pos": "859" }, { "start_pos": "863", "end_pos": "863" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "875", "end_pos": "875" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "886", "end_pos": "886" }, { "start_pos": "888", "end_pos": "888" }, { "start_pos": "922", "end_pos": "922" }, { "start_pos": "943", "end_pos": "943" }, { "start_pos": "948", "end_pos": "948" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "986", "end_pos": "986" }, { "start_pos": "993", "end_pos": "993" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1078", "end_pos": "1078" }, { "start_pos": "1092", "end_pos": "1092" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1131", "end_pos": "1131" }, { "start_pos": "1278", "end_pos": "1278" }, { "start_pos": "1282", "end_pos": "1282" }, { "start_pos": "1283", "end_pos": "1283" }, { "start_pos": "1359", "end_pos": "1359" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1584", "end_pos": "1584" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "705", "end_pos": "705" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UM73-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9UM73-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UM73-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UM73-1.48.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9UM73-1.62.62", "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": "Q16665-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "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": "rs1244683277", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244683277", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1244683277", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244683277#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RRSKESEVFYELAHQLPLPH", "down_seq": "VSSHLDKASVMRLTISYLRV", "glycosylation": [ { "glytoucan_ac": "G65000LJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SKESEVFYELAHQLPLPHNVSSHLDKASVMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn49", "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": "rs1244683277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244683277" }, { "id": "rs1244683277", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244683277#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": "14", "chr_pos": "61720492", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N49", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q16665", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "14", "chr_pos": "61720493", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N49", "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": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q16665-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.63.63", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "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": "Q16665-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Decreased OGT Attenuates Endometrial Decidualization and Embryo Implantation by Affecting HIF-1\u03b1 Stability.", "journal": "Molecular reproduction and development", "date": "2025-05", "authors": "Li Bo, Jin Ni, Lu Jie, Wang Ming, Wang Jun, Chen Shuqiang", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16665" } ], "reference": [ { "type": "PubMed", "id": "40342239", "url": "https://glygen.org/publication/PubMed/40342239" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16665" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Genistein inhibits HIF-1\u03b1 and attenuates high glucose-induced peritoneal mesothelial-mesenchymal transition and fibrosis via the mTOR/OGT pathway.", "journal": "Scientific reports", "date": "2024-10-17", "authors": "Wang Jian, Lv Xin, Lin Yao, Aniwan Ashanjiang, Liu Hongyan, Zhou Saijun, Yu Pei", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16665" } ], "reference": [ { "type": "PubMed", "id": "39420031", "url": "https://glygen.org/publication/PubMed/39420031" } ] } ], "crossref": [ { "id": "40342239", "url": "https://glygen.org/publication/PubMed/40342239", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16665", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39420031", "url": "https://glygen.org/publication/PubMed/39420031", "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": "40342239", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40342239" }, { "id": "Q16665", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16665" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "39420031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39420031" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q16665-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q16665-1.18.18", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_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": "Q16665-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A pathogen-derived effector modulates host glucose metabolism by arginine GlcNAcylation of HIF-1alpha protein.", "journal": "PLoS pathogens", "date": "2018", "authors": "Xu C, Liu X, Zha H, Fan S, Zhang D, Li S, Xiao W", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "30125331", "url": "https://glygen.org/publication/PubMed/30125331" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30125331", "url": "https://glygen.org/publication/PubMed/30125331", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MEGAGGANDKKKISSER", "down_seq": "KEKSRDAARSRRSKESEVFY", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Strongly reduced GlcNAcylation by E.coli NleB1.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "30125331", "url": "https://glygen.org/publication/PubMed/30125331" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q16665-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16665-1.12.12", "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": "Q16665-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Casein kinase 1 regulates human hypoxia-inducible factor HIF-1.", "journal": "Journal of cell science", "date": "2010", "authors": "Kalousi A, Mylonis I, Politou AS, Chachami G, Paraskeva E, Simos G", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "20699359", "url": "https://glygen.org/publication/PubMed/20699359" } ] }, { "title": "An order-to-disorder structural switch regulates HIF-1 transcription through S247 phosphorylation in the HIF1\u03b1 PAS-B domain.", "journal": "Computers in biology and medicine", "date": "2022-10", "authors": "Hsu Chia-Hung, Chen Ya-Jyun, Yang Chia-Ning", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "36027865", "url": "https://glygen.org/publication/PubMed/36027865" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20699359", "url": "https://glygen.org/publication/PubMed/20699359", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "36027865", "url": "https://glygen.org/publication/PubMed/36027865", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IPHPSNIEIPLDSKTFLSRH", "down_seq": "LDMKFSYCDERITELMGYEP", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Constitutive kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "20699359", "url": "https://glygen.org/publication/PubMed/20699359" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Impaired kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "20699359", "url": "https://glygen.org/publication/PubMed/20699359" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P48730-1", "kinase_gene_name": "CSNK1D", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20699359", "url": "https://glygen.org/publication/PubMed/20699359" } ], "site_lbl": "Ser247" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK1", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "36027865", "url": "https://glygen.org/publication/PubMed/36027865" }, { "database": "PubMed", "id": "20699359", "url": "https://glygen.org/publication/PubMed/20699359" } ], "site_lbl": "Ser247" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SUMOylation of hypoxia-inducible factor-1alpha reduces its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Berta MA, Mazure N, Hattab M, Pouyssegur J, Brahimi-Horn MC", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TECVLKPVESSDMKMTQLFT", "down_seq": "VESEDTSSLFDKLKKEPDAL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-391; R-477 and R-532.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q16665-1.397.397", "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": "Q16665-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MKMTQLFTKVESEDTSSLFD", "down_seq": "LKKEPDALTLLAPAAGDTII", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q16665-1.377.377", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16665-1.397.397", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16665-1.400.400", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16665-1.402.402", "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": "Q16665-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SUMOylation of hypoxia-inducible factor-1alpha reduces its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Berta MA, Mazure N, Hattab M, Pouyssegur J, Brahimi-Horn MC", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" } ] }, { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MTQLFTKVESEDTSSLFDKL", "down_seq": "KEPDALTLLAPAAGDTIISL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes 1 sumoylation. Abolishes 1 sumoylation; when associated with R-532. Abolishes 2 sumoylations; when associated with R-477. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R-477 and R-532.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q16665-1.377.377", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16665-1.397.397", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.400.400", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16665-1.402.402", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.392.392", "start_pos": 392, "end_pos": 392, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TQLFTKVESEDTSSLFDKLK", "down_seq": "EPDALTLLAPAAGDTIISLD", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q16665-1.377.377", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.397.397", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16665-1.400.400", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16665-1.402.402", "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": "Q16665-1.394.394", "start_pos": 394, "end_pos": 394, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation.", "journal": "The EMBO journal", "date": "2001", "authors": "Masson N, Willam C, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LFTKVESEDTSSLFDKLKKE", "down_seq": "DALTLLAPAAGDTIISLDFG", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No change in VHLE3-dependent ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16665-1.377.377", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.397.397", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16665-1.400.400", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16665-1.402.402", "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": "Q16665-1.397.397", "start_pos": 397, "end_pos": 397, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation.", "journal": "The EMBO journal", "date": "2001", "authors": "Masson N, Willam C, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KVESEDTSSLFDKLKKEPDA", "down_seq": "TLLAPAAGDTIISLDFGSND", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes VHLE3-dependent ubiquitination; when associated with A-400.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q16665-1.377.377", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.400.400", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.402.402", "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": "Q16665-1.400.400", "start_pos": 400, "end_pos": 400, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation.", "journal": "The EMBO journal", "date": "2001", "authors": "Masson N, Willam C, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SEDTSSLFDKLKKEPDALTL", "down_seq": "APAAGDTIISLDFGSNDTET", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes VHLE3-dependent ubiquitination; when associated with A-397.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.397.397", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.402.402", "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": "Q16665-1.402.402", "start_pos": 402, "end_pos": 402, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SIRT2 regulates tumour hypoxia response by promoting HIF-1alpha hydroxylation.", "journal": "Oncogene", "date": "2015", "authors": "Seo KS, Park JH, Heo JY, Jing K, Han J, Min KN, Kim C, Koh GY, Lim K, Kang GY, Uee Lee J, Yim YH, Shong M, Kwak TH, Kweon GR", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" } ] }, { "title": "Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation.", "journal": "The EMBO journal", "date": "2001", "authors": "Masson N, Willam C, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] }, { "title": "HIF-1alpha and EPAS ubiquitination mediated by the VHL tumour suppressor involves flexibility in the ubiquitination mechanism, similar to other RING E3 ligases.", "journal": "Oncogene", "date": "2007", "authors": "Paltoglou S, Roberts BJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DTSSLFDKLKKEPDALTLLA", "down_seq": "AAGDTIISLDFGSNDTETDD", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Abolishes in VHLE3-dependent ubiquitination, abolishes oxygen-dependent regulation of VP16, partially reduced VHLE target site ubiquitination and no interaction with VHL. No VHLE target site ubiquitination; when associated with G-564. Increases HIF1A instability and reduces HIF1A-induced target gene transcriptional activation; when associated with A-564.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" }, { "database": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" }, { "database": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q16665-1.389.389", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q16665-1.391.391", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q16665-1.392.392", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16665-1.394.394", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16665-1.397.397", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.400.400", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.442.442", "start_pos": 442, "end_pos": 442, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DQQLEEVPLYNDVMLPSPNE", "down_seq": "LQNINLAMSPLPTAETPKPL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q16665-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q16665-1.460.460", "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": "Q16665-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NEKLQNINLAMSPLPTAETP", "down_seq": "PLRSSADPALNQEVALKLEP", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation nor in ARD1-mediated acetylation.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q16665-1.442.442", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q16665-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16665-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16665-1.477.477", "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": "Q16665-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SUMOylation of hypoxia-inducible factor-1alpha reduces its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Berta MA, Mazure N, Hattab M, Pouyssegur J, Brahimi-Horn MC", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" } ] }, { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ETPKPLRSSADPALNQEVAL", "down_seq": "LEPNPESLELSFTMPQIQDQ", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes 1 sumoylation. Abolishes 2 sumoylations; when associated with R-391. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R-391 and R-532.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16665-1.460.460", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q16665-1.463.463", "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": "Q16665-1.532.532", "start_pos": 532, "end_pos": 532, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Interaction between HIF-1 alpha (ODD) and hARD1 does not induce acetylation and destabilization of HIF-1 alpha.", "journal": "FEBS letters", "date": "2005", "authors": "Arnesen T, Kong X, Evjenth R, Gromyko D, Varhaug JE, Lin Z, Sang N, Caro J, Lillehaug JR", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16288748", "url": "https://glygen.org/publication/PubMed/16288748" } ] }, { "title": "SUMOylation of hypoxia-inducible factor-1alpha reduces its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Berta MA, Mazure N, Hattab M, Pouyssegur J, Brahimi-Horn MC", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" } ] }, { "title": "Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.", "journal": "The EMBO journal", "date": "2000", "authors": "Tanimoto K, Makino Y, Pereira T, Poellinger L", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" } ] }, { "title": "HIF-1alpha and EPAS ubiquitination mediated by the VHL tumour suppressor involves flexibility in the ubiquitination mechanism, similar to other RING E3 ligases.", "journal": "Oncogene", "date": "2007", "authors": "Paltoglou S, Roberts BJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] }, { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16288748", "url": "https://glygen.org/publication/PubMed/16288748", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EPNSPSEYCFYVDSDMVNEF", "down_seq": "LELVEKLFAEDTEAKNPFST", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced ubiquitination. No change in sumoylation nor on interaction with NAA10. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R-391 and R-477. Complete loss of ubiquitination, but no change in VHL binding; when associated with K-538 and K-547.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "16288748", "url": "https://glygen.org/publication/PubMed/16288748" }, { "database": "PubMed", "id": "17610843", "url": "https://glygen.org/publication/PubMed/17610843" }, { "database": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" }, { "database": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q16665-1.538.538", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q16665-1.552.552", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.", "journal": "The EMBO journal", "date": "2000", "authors": "Tanimoto K, Makino Y, Pereira T, Poellinger L", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" } ] }, { "title": "HIF-1alpha and EPAS ubiquitination mediated by the VHL tumour suppressor involves flexibility in the ubiquitination mechanism, similar to other RING E3 ligases.", "journal": "Oncogene", "date": "2007", "authors": "Paltoglou S, Roberts BJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] }, { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EYCFYVDSDMVNEFKLELVE", "down_seq": "LFAEDTEAKNPFSTQDTDLD", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation, but reduced ubiquitination. Complete loss of ubiquitination, but no change in VHL binding; when associated with K-532 and K-547.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" }, { "database": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q16665-1.532.532", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.552.552", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16665-1.555.555", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.547.547", "start_pos": 547, "end_pos": 547, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.", "journal": "The EMBO journal", "date": "2000", "authors": "Tanimoto K, Makino Y, Pereira T, Poellinger L", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" } ] }, { "title": "HIF-1alpha and EPAS ubiquitination mediated by the VHL tumour suppressor involves flexibility in the ubiquitination mechanism, similar to other RING E3 ligases.", "journal": "Oncogene", "date": "2007", "authors": "Paltoglou S, Roberts BJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] }, { "title": "Sumoylation increases HIF-1alpha stability and its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Bae SH, Jeong JW, Park JA, Kim SH, Bae MK, Choi SJ, Kim KW", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MVNEFKLELVEKLFAEDTEA", "down_seq": "NPFSTQDTDLDLEMLAPYIP", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation, but reduced ubiquitination. Complete loss of ubiquitination, but no change in VHL binding; when associated with K-532 and K-538.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" }, { "database": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" }, { "database": "PubMed", "id": "15465032", "url": "https://glygen.org/publication/PubMed/15465032" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q16665-1.532.532", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16665-1.538.538", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.552.552", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16665-1.555.555", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16665-1.564.564", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q16665-1.565.565", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Hypoxia-inducible factor 1alpha protein expression is controlled by oxygen-regulated ubiquitination that is disrupted by deletions and missense mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Sutter CH, Laughner E, Semenza GL", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "10758161", "url": "https://glygen.org/publication/PubMed/10758161" } ] }, { "title": "Plk3 functions as an essential component of the hypoxia regulatory pathway by direct phosphorylation of HIF-1alpha.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Xu D, Yao Y, Lu L, Costa M, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10758161", "url": "https://glygen.org/publication/PubMed/10758161", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FKLELVEKLFAEDTEAKNPF", "down_seq": "TQDTDLDLEMLAPYIPMDDD", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Constitutive expression under nonhypoxic conditions by decreasing ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10758161", "url": "https://glygen.org/publication/PubMed/10758161" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by GSK3-beta", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ], "site_lbl": "Ser551" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q16665-1.532.532", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q16665-1.538.538", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q16665-1.552.552", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16665-1.555.555", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16665-1.564.564", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.565.565", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Hypoxia-inducible factor 1alpha protein expression is controlled by oxygen-regulated ubiquitination that is disrupted by deletions and missense mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Sutter CH, Laughner E, Semenza GL", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "10758161", "url": "https://glygen.org/publication/PubMed/10758161" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10758161", "url": "https://glygen.org/publication/PubMed/10758161", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KLELVEKLFAEDTEAKNPFS", "down_seq": "QDTDLDLEMLAPYIPMDDDF", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Constitutive expression under nonhypoxic conditions by decreasing ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10758161", "url": "https://glygen.org/publication/PubMed/10758161" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q16665-1.532.532", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q16665-1.538.538", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.555.555", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16665-1.564.564", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16665-1.565.565", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SIRT2 regulates tumour hypoxia response by promoting HIF-1alpha hydroxylation.", "journal": "Oncogene", "date": "2015", "authors": "Seo KS, Park JH, Heo JY, Jing K, Han J, Min KN, Kim C, Koh GY, Lim K, Kang GY, Uee Lee J, Yim YH, Shong M, Kwak TH, Kweon GR", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" } ] }, { "title": "Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation.", "journal": "The EMBO journal", "date": "2001", "authors": "Masson N, Willam C, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" } ] }, { "title": "HIF-1alpha and EPAS ubiquitination mediated by the VHL tumour suppressor involves flexibility in the ubiquitination mechanism, similar to other RING E3 ligases.", "journal": "Oncogene", "date": "2007", "authors": "Paltoglou S, Roberts BJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TEAKNPFSTQDTDLDLEMLA", "down_seq": "YIPMDDDFQLRSFDQLSPLE", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Increases HIF1A instability and reduces HIF1A-induced target gene transcriptional activation; when associated with A-402.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" }, { "database": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" }, { "database": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] }, { "sequence_org": "P", "sequence_mut": "G", "comment": "No change in VHL-dependent ubiquitination. Partially reduced VHLE target site ubiquitination. No VHLE target site ubiquitination; when associated with A-402.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" }, { "database": "PubMed", "id": "11566883", "url": "https://glygen.org/publication/PubMed/11566883" }, { "database": "PubMed", "id": "16862177", "url": "https://glygen.org/publication/PubMed/16862177" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q16665-1.552.552", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16665-1.555.555", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q16665-1.565.565", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16665-1.576.576", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.576.576", "start_pos": 576, "end_pos": 576, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Plk3 functions as an essential component of the hypoxia regulatory pathway by direct phosphorylation of HIF-1alpha.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Xu D, Yao Y, Lu L, Costa M, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] }, { "title": "Polo-like kinase 3 functions as a tumor suppressor and is a negative regulator of hypoxia-inducible factor-1 alpha under hypoxic conditions.", "journal": "Cancer research", "date": "2008", "authors": "Yang Y, Bai J, Shen R, Brown SA, Komissarova E, Huang Y, Jiang N, Alberts GF, Costa M, Lu L, Winkles JA, Dai W", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DLDLEMLAPYIPMDDDFQLR", "down_seq": "FDQLSPLESSSASPESASPQ", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Induces stabilization of the protein.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9H4B4-1", "kinase_gene_name": "PLK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" }, { "database": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ], "site_lbl": "Ser576" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PLK3", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ], "site_lbl": "Ser576" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q16665-1.564.564", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q16665-1.565.565", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16665-1.589.589", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.657.657", "start_pos": 657, "end_pos": 657, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Plk3 functions as an essential component of the hypoxia regulatory pathway by direct phosphorylation of HIF-1alpha.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Xu D, Yao Y, Lu L, Costa M, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] }, { "title": "Polo-like kinase 3 functions as a tumor suppressor and is a negative regulator of hypoxia-inducible factor-1 alpha under hypoxic conditions.", "journal": "Cancer research", "date": "2008", "authors": "Yang Y, Bai J, Shen R, Brown SA, Komissarova E, Huang Y, Jiang N, Alberts GF, Costa M, Lu L, Winkles JA, Dai W", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILIASPSPTHIHKETTSATS", "down_seq": "PYRDTQSRTASPNRAGKGVI", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Induces stabilization of the protein.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9H4B4-1", "kinase_gene_name": "PLK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" }, { "database": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ], "site_lbl": "Ser657" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PLK3", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ], "site_lbl": "Ser657" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q16665-1.641.641", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q16665-1.643.643", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q16665-1.664.664", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16665-1.668.668", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SIRT2 regulates tumour hypoxia response by promoting HIF-1alpha hydroxylation.", "journal": "Oncogene", "date": "2015", "authors": "Seo KS, Park JH, Heo JY, Jing K, Han J, Min KN, Kim C, Koh GY, Lim K, Kang GY, Uee Lee J, Yim YH, Shong M, Kwak TH, Kweon GR", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NVLSVALSQRTTVPEEELNP", "down_seq": "ILALQNAQRKRKMEHDGSLF", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes SIRT2-mediated deacetylation, increases HIF1A instability and reduces HIF1A-induced target gene transcriptional activation. Increases interaction with EGLN1.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "24681946", "url": "https://glygen.org/publication/PubMed/24681946" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q16665-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q16665-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q16665-1.696.696", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16665-1.719.719", "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": "Q16665-1.719.719", "start_pos": 719, "end_pos": 719, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.", "journal": "The EMBO journal", "date": "2000", "authors": "Tanimoto K, Makino Y, Pereira T, Poellinger L", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" } ] }, { "title": "Signal transduction in hypoxic cells: inducible nuclear translocation and recruitment of the CBP/p300 coactivator by the hypoxia-inducible factor-1alpha.", "journal": "The EMBO journal", "date": "1998", "authors": "Kallio PJ, Okamoto K, O'Brien S, Carrero P, Makino Y, Tanaka H, Poellinger L", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "Reactome", "id": "R-HSA-1234158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234158" } ], "reference": [ { "type": "PubMed", "id": "9822602", "url": "https://glygen.org/publication/PubMed/9822602" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9822602", "url": "https://glygen.org/publication/PubMed/9822602", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TTVPEEELNPKILALQNAQR", "down_seq": "RKMEHDGSLFQAVGIGTLLQ", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Dramatic reduction of accumulation in the nucleus in response to hypoxia.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" }, { "database": "PubMed", "id": "9822602", "url": "https://glygen.org/publication/PubMed/9822602" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q16665-1.709.709", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.795.795", "start_pos": 795, "end_pos": 795, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural basis for negative regulation of hypoxia-inducible factor-1alpha by CITED2.", "journal": "Nature structural biology", "date": "2003", "authors": "Freedman SJ, Sun ZY, Kung AL, France DS, Wagner G, Eck MJ", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "12778114", "url": "https://glygen.org/publication/PubMed/12778114" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12778114", "url": "https://glygen.org/publication/PubMed/12778114", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PSDLACRLLGQSMDESGLPQ", "down_seq": "TSYDCEVNAPIQGSRNLLQG", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Inhibits interaction with EP300 and transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "12778114", "url": "https://glygen.org/publication/PubMed/12778114" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q16665-1.796.796", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.797.797", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.800.800", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16665-1.803.803", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16665-1.805.805", "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": "Q16665-1.800.800", "start_pos": 800, "end_pos": 800, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Molecular mechanisms of transcription activation by HLF and HIF1alpha in response to hypoxia: their stabilization and redox signal-induced interaction with CBP/p300.", "journal": "The EMBO journal", "date": "1999", "authors": "Ema M, Hirota K, Mimura J, Abe H, Yodoi J, Sogawa K, Poellinger L, Fujii-Kuriyama Y", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "Reactome", "id": "R-HSA-1234158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234158" } ], "reference": [ { "type": "PubMed", "id": "10202154", "url": "https://glygen.org/publication/PubMed/10202154" } ] }, { "title": "S-nitrosation of Cys-800 of HIF-1alpha protein activates its interaction with p300 and stimulates its transcriptional activity.", "journal": "FEBS letters", "date": "2003", "authors": "Yasinska IM, Sumbayev VV", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "12914934", "url": "https://glygen.org/publication/PubMed/12914934" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "10202154", "url": "https://glygen.org/publication/PubMed/10202154", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12914934", "url": "https://glygen.org/publication/PubMed/12914934", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "CRLLGQSMDESGLPQLTSYD", "down_seq": "EVNAPIQGSRNLLQGEELLR", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Blocks increase in transcriptional activation caused by nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10202154", "url": "https://glygen.org/publication/PubMed/10202154" }, { "database": "PubMed", "id": "12914934", "url": "https://glygen.org/publication/PubMed/12914934" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes hypoxia-inducible transcriptional activation of ctaD.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "10202154", "url": "https://glygen.org/publication/PubMed/10202154" }, { "database": "PubMed", "id": "12914934", "url": "https://glygen.org/publication/PubMed/12914934" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q16665-1.795.795", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16665-1.796.796", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.797.797", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.803.803", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.805.805", "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": "Q16665-1.803.803", "start_pos": 803, "end_pos": 803, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Histone deacetylase inhibitors repress the transactivation potential of hypoxia-inducible factors independently of direct acetylation of HIF-alpha.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Fath DM, Kong X, Liang D, Lin Z, Chou A, Jiang Y, Fang J, Caro J, Sang N", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16543236", "url": "https://glygen.org/publication/PubMed/16543236" } ] }, { "title": "Clioquinol, a Cu(II)/Zn(II) chelator, inhibits both ubiquitination and asparagine hydroxylation of hypoxia-inducible factor-1alpha, leading to expression of vascular endothelial growth factor and erythropoietin in normoxic cells.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Choi SM, Choi KO, Park YK, Cho H, Yang EG, Park H", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16973622", "url": "https://glygen.org/publication/PubMed/16973622" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16543236", "url": "https://glygen.org/publication/PubMed/16543236", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16973622", "url": "https://glygen.org/publication/PubMed/16973622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGQSMDESGLPQLTSYDCEV", "down_seq": "APIQGSRNLLQGEELLRALD", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Recruits CREBBP. No enhancement of CREBBP by Clioquinol in the presence of FIH1. No change in nuclear location nor on repression of transcriptional activity in the presence of histone deacetylase inhibitor.", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "PubMed", "id": "16543236", "url": "https://glygen.org/publication/PubMed/16543236" }, { "database": "PubMed", "id": "16973622", "url": "https://glygen.org/publication/PubMed/16973622" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q16665-1.795.795", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q16665-1.796.796", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16665-1.797.797", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.800.800", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.805.805", "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": "Q16665-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2044428141", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044428141", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044428141", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044428141#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DGFVMVLTDDGDMIYISDNV", "down_seq": "KYMGLTQFELTGHSVFDFTH", "snv": [ { "evidence": [ { "id": "rs2044428141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044428141" }, { "id": "rs2044428141", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044428141#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "14", "chr_pos": "61721632", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N117", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q16665-1.134.134", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs943135091", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs943135091", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs943135091", "url": "https://www.ensembl.org/id/rs943135091", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MEGAGGANDKK", "down_seq": "ISSERRKEKSRDAARSRRSK", "snv": [ { "evidence": [ { "id": "rs943135091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs943135091" }, { "id": "rs943135091", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs943135091" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "14", "chr_pos": "61720382", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K12", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q16665-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16665-1.18.18", "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": "Q16665-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1594871043", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1594871043", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1594871043", "url": "https://www.ensembl.org/id/rs1594871043", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DNVNKYMGLTQFELTGHSVF", "down_seq": "FTHPCDHEEMREMLTHRNGL", "snv": [ { "evidence": [ { "id": "rs1594871043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1594871043" }, { "id": "rs1594871043", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1594871043" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "14", "chr_pos": "61721766", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16665-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16665", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2140149468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140149468", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140149468", "url": "https://www.ensembl.org/id/rs2140149468", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2140149468", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2140149468", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LAKRGGYVWVETQATVIYNT", "down_seq": "NSQPQCIVCVNYVVSGIIQH", "snv": [ { "evidence": [ { "id": "Q16665", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665" }, { "id": "rs2140149468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140149468" }, { "id": "rs2140149468", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140149468" }, { "id": "rs2140149468", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2140149468" } ], "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 (KNS->NNS).", "chr_id": "14", "chr_pos": "61734241", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K328", "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": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.449.449", "start_pos": 449, "end_pos": 449, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753487050", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753487050", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753487050", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753487050", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753487050", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753487050", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PLYNDVMLPSPNEKLQNINL", "down_seq": "MSPLPTAETPKPLRSSADPA", "snv": [ { "evidence": [ { "id": "rs753487050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753487050" }, { "id": "rs753487050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753487050" }, { "id": "rs753487050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753487050" } ], "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": "14", "chr_pos": "61738182", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A449", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q16665-1.442.442", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16665-1.460.460", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.463.463", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.463.463", "start_pos": 463, "end_pos": 463, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16665", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQNINLAMSPLPTAETPKPL", "down_seq": "SSADPALNQEVALKLEPNPE", "snv": [ { "evidence": [ { "id": "Q16665", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "61738224", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R463", "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": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q16665-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q16665-1.451.451", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.460.460", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.477.477", "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": "Q16665-1.503.503", "start_pos": 503, "end_pos": 503, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778074616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778074616", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778074616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778074616", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778074616", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778074616#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778074616", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778074616", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs778074616", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778074616", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ESLELSFTMPQIQDQTPSPS", "down_seq": "GSTRQSSPEPNSPSEYCFYV", "snv": [ { "evidence": [ { "id": "rs778074616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778074616" }, { "id": "rs778074616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778074616" }, { "id": "rs778074616", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778074616#frequency_tab" }, { "id": "rs778074616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778074616" }, { "id": "rs778074616", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778074616" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "14", "chr_pos": "61738344", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D503", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140136522", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140136522", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140136522", "url": "https://www.ensembl.org/id/rs2140136522", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKESEVFYELAHQLPLPHNV", "down_seq": "SHLDKASVMRLTISYLRVRK", "snv": [ { "evidence": [ { "id": "rs2140136522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140136522" }, { "id": "rs2140136522", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140136522" } ], "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 (NVS->NVG).", "chr_id": "14", "chr_pos": "61720497", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q16665-1.49.49", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16665-1.63.63", "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": "Q16665-1.615.615", "start_pos": 615, "end_pos": 615, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759601882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759601882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759601882", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759601882", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PQSTVTVFQQTQIQEPTANA", "down_seq": "TTTATTDELKTVTKDRMEDI", "snv": [ { "evidence": [ { "id": "rs759601882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882" }, { "id": "rs759601882", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882" }, { "id": "rs759601882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759601882" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "14", "chr_pos": "61740939", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T615", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q16665-1.616.616", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.616.616", "start_pos": 616, "end_pos": 616, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759601882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759601882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759601882", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759601882", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QSTVTVFQQTQIQEPTANAT", "down_seq": "TTATTDELKTVTKDRMEDIK", "snv": [ { "evidence": [ { "id": "rs759601882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882" }, { "id": "rs759601882", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759601882" }, { "id": "rs759601882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759601882" } ], "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": "14", "chr_pos": "61740939", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T616", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q16665-1.615.615", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q16665-1.662.662", "start_pos": 662, "end_pos": 662, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780456004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780456004", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780456004", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780456004#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780456004", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780456004", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSPTHIHKETTSATSSPYRD", "down_seq": "QSRTASPNRAGKGVIEQTEK", "snv": [ { "evidence": [ { "id": "rs780456004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780456004" }, { "id": "rs780456004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780456004#frequency_tab" }, { "id": "rs780456004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780456004" } ], "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 (TQS->NQS).", "chr_id": "14", "chr_pos": "61741080", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T662", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q16665-1.643.643", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16665-1.657.657", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.664.664", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16665-1.668.668", "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": "Q16665-1.664.664", "start_pos": 664, "end_pos": 664, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2044705134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044705134", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044705134", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044705134#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2044705134", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2044705134", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PTHIHKETTSATSSPYRDTQ", "down_seq": "RTASPNRAGKGVIEQTEKSH", "snv": [ { "evidence": [ { "id": "rs2044705134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044705134" }, { "id": "rs2044705134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044705134#frequency_tab" }, { "id": "rs2044705134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2044705134" } ], "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 (SRT->NRT).", "chr_id": "14", "chr_pos": "61741086", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S664", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q16665-1.657.657", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16665-1.668.668", "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": "Q16665-1.690.690", "start_pos": 690, "end_pos": 690, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16665", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "NRAGKGVIEQTEKSHPRSPN", "down_seq": "LSVALSQRTTVPEEELNPKI", "snv": [ { "evidence": [ { "id": "Q16665", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q16665" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "61741163", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V690", "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" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q16665-1.687.687", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q16665-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16665-1.696.696", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q16665-1.709.709", "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": "Q16665-1.805.805", "start_pos": 805, "end_pos": 805, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1354416944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354416944", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1354416944", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1354416944#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1354416944", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354416944", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QSMDESGLPQLTSYDCEVNA", "down_seq": "IQGSRNLLQGEELLRALDQV", "snv": [ { "evidence": [ { "id": "rs1354416944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354416944" }, { "id": "rs1354416944", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1354416944#frequency_tab" }, { "id": "rs1354416944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354416944" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "14", "chr_pos": "61747017", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P805", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q16665-1.795.795", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q16665-1.796.796", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16665-1.797.797", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q16665-1.800.800", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.803.803", "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": "Q16665-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Alternative regulation of HIF-1\u03b1 stability through Phosphorylation on Ser451.", "journal": "Biochemical and biophysical research communications", "date": "2021-03-19", "authors": "Han Hyeong-Jun, Saeidi Soma, Kim Su-Jung, Piao Juan-Yu, Lim Sooa, Guillen-Quispe Yanymee N, Choi Bu Young, Surh Young-Joon", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "33550096", "url": "https://glygen.org/publication/PubMed/33550096" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "33550096", "url": "https://glygen.org/publication/PubMed/33550096", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YNDVMLPSPNEKLQNINLAM", "down_seq": "PLPTAETPKPLRSSADPALN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "33550096", "url": "https://glygen.org/publication/PubMed/33550096" } ], "site_lbl": "Ser451" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16665-1.442.442", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.460.460", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q16665-1.463.463", "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": "Q16665-1.555.555", "start_pos": 555, "end_pos": 555, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Plk3 functions as an essential component of the hypoxia regulatory pathway by direct phosphorylation of HIF-1alpha.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Xu D, Yao Y, Lu L, Costa M, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LVEKLFAEDTEAKNPFSTQD", "down_seq": "DLDLEMLAPYIPMDDDFQLR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by GSK3-beta", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ], "site_lbl": "Thr555" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q16665-1.538.538", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q16665-1.552.552", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.564.564", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q16665-1.565.565", "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": "Q16665-1.565.565", "start_pos": 565, "end_pos": 565, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q16665", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q16665", "database": "PRO", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "EAKNPFSTQDTDLDLEMLAP", "down_seq": "IPMDDDFQLRSFDQLSPLES", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "Q16665", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "site_lbl": "Tyr565" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q16665-1.547.547", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q16665-1.551.551", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q16665-1.552.552", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q16665-1.555.555", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q16665-1.564.564", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q16665-1.576.576", "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": "Q16665-1.589.589", "start_pos": 589, "end_pos": 589, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Plk3 functions as an essential component of the hypoxia regulatory pathway by direct phosphorylation of HIF-1alpha.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Xu D, Yao Y, Lu L, Costa M, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DDDFQLRSFDQLSPLESSSA", "down_seq": "PESASPQSTVTVFQQTQIQE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by GSK3-beta", "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "20889502", "url": "https://glygen.org/publication/PubMed/20889502" } ], "site_lbl": "Ser589" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q16665-1.576.576", "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": "Q16665-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Protein kinase A-dependent phosphorylation stimulates the transcriptional activity of hypoxia-inducible factor 1.", "journal": "Science signaling", "date": "2016", "authors": "Bullen JW, Tchernyshyov I, Holewinski RJ, DeVine L, Wu F, Venkatraman V, Kass DL, Cole RN, Van Eyk J, Semenza GL", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "27245613", "url": "https://glygen.org/publication/PubMed/27245613" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27245613", "url": "https://glygen.org/publication/PubMed/27245613", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QLPLPHNVSSHLDKASVMRL", "down_seq": "ISYLRVRKLLDAGDLDIEDD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "27245613", "url": "https://glygen.org/publication/PubMed/27245613" } ], "site_lbl": "Thr63" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q16665-1.49.49", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q16665-1.51.51", "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": "Q16665-1.641.641", "start_pos": 641, "end_pos": 641, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Polo-like kinase 3 functions as a tumor suppressor and is a negative regulator of hypoxia-inducible factor-1 alpha under hypoxic conditions.", "journal": "Cancer research", "date": "2008", "authors": "Yang Y, Bai J, Shen R, Brown SA, Komissarova E, Huang Y, Jiang N, Alberts GF, Costa M, Lu L, Winkles JA, Dai W", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ] }, { "title": "Identification of MAPK phosphorylation sites and their role in the localization and activity of hypoxia-inducible factor-1alpha.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Mylonis I, Chachami G, Samiotaki M, Panayotou G, Paraskeva E, Kalousi A, Georgatsou E, Bonanou S, Simos G", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TDELKTVTKDRMEDIKILIA", "down_seq": "PSPTHIHKETTSATSSPYRD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ], "site_lbl": "Ser641" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218" }, { "database": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ], "site_lbl": "Ser641" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218" } ], "site_lbl": "Ser641" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q16665-1.643.643", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q16665-1.657.657", "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": 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": "Q16665-1.643.643", "start_pos": 643, "end_pos": 643, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Polo-like kinase 3 functions as a tumor suppressor and is a negative regulator of hypoxia-inducible factor-1 alpha under hypoxic conditions.", "journal": "Cancer research", "date": "2008", "authors": "Yang Y, Bai J, Shen R, Brown SA, Komissarova E, Huang Y, Jiang N, Alberts GF, Costa M, Lu L, Winkles JA, Dai W", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ] }, { "title": "Identification of MAPK phosphorylation sites and their role in the localization and activity of hypoxia-inducible factor-1alpha.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Mylonis I, Chachami G, Samiotaki M, Panayotou G, Paraskeva E, Kalousi A, Georgatsou E, Bonanou S, Simos G", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ELKTVTKDRMEDIKILIASP", "down_seq": "PTHIHKETTSATSSPYRDTQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ], "site_lbl": "Ser643" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218" }, { "database": "PubMed", "id": "18519666", "url": "https://glygen.org/publication/PubMed/18519666" } ], "site_lbl": "Ser643" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "16954218", "url": "https://glygen.org/publication/PubMed/16954218" } ], "site_lbl": "Ser643" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q16665-1.641.641", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q16665-1.657.657", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q16665-1.662.662", "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": "Q16665-1.668.668", "start_pos": 668, "end_pos": 668, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry.", "journal": "Nature communications", "date": "2016-11-21", "authors": "Bassani-Sternberg Michal, Br\u00e4unlein Eva, Klar Richard, Engleitner Thomas, Sinitcyn Pavel, Audehm Stefan, Straub Melanie, Weber Julia, Slotta-Huspenina Julia, Specht Katja, Martignoni Marc E, Werner Angelika, Hein R\u00fcdiger, H Busch Dirk, Peschel Christian, Rad Roland, Cox J\u00fcrgen, Mann Matthias, Krackhardt Angela M", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ] }, { "title": "CDK1 stabilizes HIF-1alpha via direct phosphorylation of Ser668 to promote tumor growth.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2013", "authors": "Warfel NA, Dolloff NG, Dicker DT, Malysz J, El-Deiry WS", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "24189531", "url": "https://glygen.org/publication/PubMed/24189531" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.iedb.org/epitope/Q16665", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24189531", "url": "https://glygen.org/publication/PubMed/24189531", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HKETTSATSSPYRDTQSRTA", "down_seq": "PNRAGKGVIEQTEKSHPRSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q16665", "url": "https://www.iedb.org/epitope/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" }, { "database": "PubMed", "id": "24189531", "url": "https://glygen.org/publication/PubMed/24189531" } ], "site_lbl": "Ser668" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q16665-1.657.657", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16665-1.662.662", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16665-1.664.664", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q16665-1.687.687", "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": "Q16665-1.687.687", "start_pos": 687, "end_pos": 687, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Molecular Basis for the Presentation of Phosphorylated Peptides by HLA-B Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2017-02", "authors": "Alp\u00edzar Ad\u00e1n, Marino Fabio, Ramos-Fern\u00e1ndez Antonio, Lombard\u00eda Manuel, Jeko Anita, Pazos Florencio, Paradela Alberto, Santiago C\u00e9sar, Heck Albert J R, Marcilla Miguel", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "IEDB", "id": "213056", "url": "https://www.iedb.org/epitope/213056" }, { "database": "IEDB", "id": "239787", "url": "https://www.iedb.org/epitope/239787" }, { "database": "IEDB", "id": "241505", "url": "https://www.iedb.org/epitope/241505" }, { "database": "IEDB", "id": "448242", "url": "https://www.iedb.org/epitope/448242" }, { "database": "IEDB", "id": "494973", "url": "https://www.iedb.org/epitope/494973" } ], "reference": [ { "type": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" } ] }, { "title": "Pre-fractionation Extends but also Creates a Bias in the Detectable HLA Class \u0399 Ligandome.", "journal": "Journal of proteome research", "date": "2019-04-05", "authors": "Demmers Laura C, Heck Albert J R, Wu Wei", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "30784271", "url": "https://glygen.org/publication/PubMed/30784271" } ] }, { "title": "An Integrated Genomic, Proteomic, and Immunopeptidomic Approach to Discover Treatment-Induced Neoantigens.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Olsson Niclas, Heberling Marlene L, Zhang Lichao, Jhunjhunwala Suchit, Phung Qui T, Lin Sarah, Anania Veronica G, Lill Jennie R, Elias Joshua E", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "IEDB", "id": "439286", "url": "https://www.iedb.org/epitope/439286" }, { "database": "IEDB", "id": "445219", "url": "https://www.iedb.org/epitope/445219" }, { "database": "IEDB", "id": "504518", "url": "https://www.iedb.org/epitope/504518" }, { "database": "IEDB", "id": "573273", "url": "https://www.iedb.org/epitope/573273" }, { "database": "IEDB", "id": "577966", "url": "https://www.iedb.org/epitope/577966" }, { "database": "IEDB", "id": "1033075", "url": "https://www.iedb.org/epitope/1033075" }, { "database": "IEDB", "id": "1574851", "url": "https://www.iedb.org/epitope/1574851" }, { "database": "IEDB", "id": "1581308", "url": "https://www.iedb.org/epitope/1581308" }, { "database": "IEDB", "id": "1585762", "url": "https://www.iedb.org/epitope/1585762" } ], "reference": [ { "type": "PubMed", "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100" } ] }, { "title": "Cyclin-dependent kinase 5 stabilizes hypoxia-inducible factor-1alpha: a novel approach for inhibiting angiogenesis in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2016", "authors": "Herzog J, Ehrlich SM, Pfitzer L, Liebl J, Frohlich T, Arnold GJ, Mikulits W, Haider C, Vollmar AM, Zahler S", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "27027353", "url": "https://glygen.org/publication/PubMed/27027353" } ] } ], "crossref": [ { "id": "Q16665", "url": "https://www.iedb.org/epitope/Q16665", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30784271", "url": "https://glygen.org/publication/PubMed/30784271", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27027353", "url": "https://glygen.org/publication/PubMed/27027353", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASPNRAGKGVIEQTEKSHPR", "down_seq": "PNVLSVALSQRTTVPEEELN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q16665", "url": "https://www.iedb.org/epitope/Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" }, { "database": "PubMed", "id": "30784271", "url": "https://glygen.org/publication/PubMed/30784271" }, { "database": "PubMed", "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100" }, { "database": "PubMed", "id": "27027353", "url": "https://glygen.org/publication/PubMed/27027353" } ], "site_lbl": "Ser687" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q16665-1.668.668", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q16665-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.696.696", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q16665-1.692.692", "start_pos": 692, "end_pos": 692, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Protein kinase A-dependent phosphorylation stimulates the transcriptional activity of hypoxia-inducible factor 1.", "journal": "Science signaling", "date": "2016", "authors": "Bullen JW, Tchernyshyov I, Holewinski RJ, DeVine L, Wu F, Venkatraman V, Kass DL, Cole RN, Van Eyk J, Semenza GL", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "27245613", "url": "https://glygen.org/publication/PubMed/27245613" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27245613", "url": "https://glygen.org/publication/PubMed/27245613", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AGKGVIEQTEKSHPRSPNVL", "down_seq": "VALSQRTTVPEEELNPKILA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "27245613", "url": "https://glygen.org/publication/PubMed/27245613" } ], "site_lbl": "Ser692" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q16665-1.687.687", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q16665-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16665-1.696.696", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q16665-1.709.709", "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": "Q16665-1.696.696", "start_pos": 696, "end_pos": 696, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "mTORC1 signaling under hypoxic conditions is controlled by ATM-dependent phosphorylation of HIF-1alpha.", "journal": "Molecular cell", "date": "2010", "authors": "Cam H, Easton JB, High A, Houghton PJ", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "21095582", "url": "https://glygen.org/publication/PubMed/21095582" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "21095582", "url": "https://glygen.org/publication/PubMed/21095582", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VIEQTEKSHPRSPNVLSVAL", "down_seq": "QRTTVPEEELNPKILALQNA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "21095582", "url": "https://glygen.org/publication/PubMed/21095582" } ], "site_lbl": "Ser696" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "21095582", "url": "https://glygen.org/publication/PubMed/21095582" } ], "site_lbl": "Ser696" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q16665-1.687.687", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q16665-1.690.690", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q16665-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q16665-1.709.709", "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": 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": "Q16665-1.796.796", "start_pos": 796, "end_pos": 796, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Modulation of p300 binding by posttranslational modifications of the C-terminal activation domain of hypoxia-inducible factor-1alpha.", "journal": "FEBS letters", "date": "2007", "authors": "Cho H, Ahn DR, Park H, Yang EG", "evidence": [ { "database": "iPTMnet", "id": "Q16665-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665-1" } ], "reference": [ { "type": "PubMed", "id": "17382325", "url": "https://glygen.org/publication/PubMed/17382325" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17382325", "url": "https://glygen.org/publication/PubMed/17382325", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SDLACRLLGQSMDESGLPQL", "down_seq": "SYDCEVNAPIQGSRNLLQGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "17382325", "url": "https://glygen.org/publication/PubMed/17382325" } ], "site_lbl": "Thr796" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q16665-1.795.795", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q16665-1.797.797", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q16665-1.800.800", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q16665-1.803.803", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q16665-1.805.805", "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": "Q16665-1.797.797", "start_pos": 797, "end_pos": 797, "uniprot_canonical_ac": "Q16665-1", "length": 826, "uniprot_id": "HIF1A_HUMAN", "protein_name": "Hypoxia-inducible factor 1-alpha", "refseq_ac": "NP_001230013", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "gene_name": "HIF1A", "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16665", "url": "https://www.uniprot.org/uniprotkb/Q16665" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The LINK-A lncRNA activates normoxic HIF1alpha signalling in triple-negative breast cancer.", "journal": "Nature cell biology", "date": "2016", "authors": "Lin A, Li C, Xing Z, Hu Q, Liang K, Han L, Wang C, Hawke DH, Wang S, Zhang Y, Wei Y, Ma G, Park PK, Zhou J, Zhou Y, Hu Z, Zhou Y, Marks JR, Liang H, Hung MC, Lin C, Yang L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8857538", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8857538" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "reference": [ { "type": "PubMed", "id": "26751287", "url": "https://glygen.org/publication/PubMed/26751287" } ] } ], "crossref": [ { "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "26751287", "url": "https://glygen.org/publication/PubMed/26751287", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q16665", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q16665", "database": "PRO", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DLACRLLGQSMDESGLPQLT", "down_seq": "YDCEVNAPIQGSRNLLQGEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q5S007-1", "kinase_gene_name": "LRRK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" }, { "database": "PubMed", "id": "26751287", "url": "https://glygen.org/publication/PubMed/26751287" } ], "site_lbl": "Ser797" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q16665", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q16665" }, { "database": "iPTMnet", "id": "Q16665", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16665" } ], "site_lbl": "Ser797" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "49", "end_pos": "49" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "795", "end_pos": "795" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "803", "end_pos": "803" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "664", "end_pos": "664" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "805", "end_pos": "805" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "247", "end_pos": "247" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "696", "end_pos": "696" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "797", "end_pos": "797" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q16665-1.795.795", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q16665-1.796.796", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q16665-1.800.800", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q16665-1.803.803", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q16665-1.805.805", "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": 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": "Q96Q42-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] }, { "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": "Q96Q42", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96Q42", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96Q42", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "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": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q96Q42", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96Q42" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "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": "Q96Q42-1.1111.1111", "start_pos": 1111, "end_pos": 1111, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96Q42", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NKAMNKEDHYVGHWKEGKMC", "down_seq": "QGVYSYASGEVFEGCFQDNM", "snv": [ { "evidence": [ { "id": "Q96Q42", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42" } ], "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": "2", "chr_pos": "201725372", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1111", "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": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96Q42-1.1132.1132", "start_pos": 1132, "end_pos": 1132, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96Q42", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QGVYSYASGEVFEGCFQDNM", "down_seq": "HGHGLLRSGKLTSSSPSMFI", "snv": [ { "evidence": [ { "id": "Q96Q42", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42" } ], "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 (5).", "chr_id": "2", "chr_pos": "201724413", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1132", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96Q42-1.1173.1173", "start_pos": 1173, "end_pos": 1173, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96Q42", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GQWVMDKKAGYGVFDDITRG", "down_seq": "KYMGMWQDDVCQGNGVVVTQ", "snv": [ { "evidence": [ { "id": "Q96Q42", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "201723436", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E1173", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96Q42-1.350.350", "start_pos": 350, "end_pos": 350, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96Q42", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ISSARNIPSYPDTQAVNEYL", "down_seq": "KLSDHSVREDSEHGEKPVPS", "snv": [ { "evidence": [ { "id": "Q96Q42", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42" } ], "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": "2", "chr_pos": "201760946", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R350", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96Q42-1.510.510", "start_pos": 510, "end_pos": 510, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96Q42", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QVSPRLLRKAARVKTRTVVL", "down_seq": "PTYSGEADALLPSLRTEVWT", "snv": [ { "evidence": [ { "id": "Q96Q42", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96Q42" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "201754615", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T510", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "site_lbl": "Thr510" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96Q42-1.492.492", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 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": "Q96Q42-1.1335.1335", "start_pos": 1335, "end_pos": 1335, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WKAWDNIAVALTTSRRQHRD", "down_seq": "PEILSRSQTQTLESLEFIPQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "site_lbl": "Ser1335" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q96Q42-1.1344.1344", "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": "Q96Q42-1.1344.1344", "start_pos": 1344, "end_pos": 1344, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALTTSRRQHRDSPEILSRSQ", "down_seq": "QTLESLEFIPQHVGAFSVEK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Thr1344" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q96Q42-1.1335.1335", "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": "Q96Q42-1.1462.1462", "start_pos": 1462, "end_pos": 1462, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSAPLPTERKSFCTGKSDSR", "down_seq": "ESPEPGYVVTSSGLLLPVLL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser1462" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96Q42-1.1464.1464", "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": "Q96Q42-1.1464.1464", "start_pos": 1464, "end_pos": 1464, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APLPTERKSFCTGKSDSRSE", "down_seq": "PEPGYVVTSSGLLLPVLLPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1464" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96Q42-1.1462.1462", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96Q42-1.465.465", "start_pos": 465, "end_pos": 465, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLKDSREEQVKQESMQGKKS", "down_seq": "SLVDIREEETEGGSRRLSLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "site_lbl": "Ser465" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q96Q42-1.466.466", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96Q42-1.483.483", "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": "Q96Q42-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "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": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LKDSREEQVKQESMQGKKSS", "down_seq": "LVDIREEETEGGSRRLSLPG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser466" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q96Q42-1.465.465", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q96Q42-1.483.483", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96Q42-1.483.483", "start_pos": 483, "end_pos": 483, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSSSLVDIREEETEGGSRRL", "down_seq": "LPGLLSQVSPRLLRKAARVK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser483" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96Q42-1.465.465", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q96Q42-1.466.466", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q96Q42-1.492.492", "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": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96Q42-1.492.492", "start_pos": 492, "end_pos": 492, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "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": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "Q96Q42-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42-1" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEETEGGSRRLSLPGLLSQV", "down_seq": "PRLLRKAARVKTRTVVLTPT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser492" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q96Q42-1.483.483", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96Q42-1.510.510", "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": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96Q42-1.965.965", "start_pos": 965, "end_pos": 965, "uniprot_canonical_ac": "Q96Q42-1", "length": 1657, "uniprot_id": "ALS2_HUMAN", "protein_name": "Alsin", "refseq_ac": "NP_001129217", "refseq_name": "alsin isoform 2", "gene_name": "ALS2", "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96Q42", "url": "https://www.uniprot.org/uniprotkb/Q96Q42" } ], "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": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q96Q42", "url": "https://www.iedb.org/epitope/Q96Q42", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42", "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": "HAQFSTHHVFPLATLWAEPL", "down_seq": "EEAGGVNGLKITTPEEQFTL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q96Q42", "url": "https://www.iedb.org/epitope/Q96Q42" }, { "database": "iPTMnet", "id": "Q96Q42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96Q42" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser965" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1111", "end_pos": "1111" }, { "start_pos": "1132", "end_pos": "1132" }, { "start_pos": "1173", "end_pos": "1173" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "510", "end_pos": "510" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1335", "end_pos": "1335" }, { "start_pos": "1344", "end_pos": "1344" }, { "start_pos": "1462", "end_pos": "1462" }, { "start_pos": "1464", "end_pos": "1464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "965", "end_pos": "965" } ] } ], "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": "Q6NS38-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q6NS38", "url": "https://oglcnac.org/atlas/detail/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NS38", "url": "https://oglcnac.org/atlas/detail/Q6NS38", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKQATYGDAGLTYTFSGLTL", "down_seq": "PKPWIPVLERIRDHVSGVTG", "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": "Ser130", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q6NS38", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6NS38" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6NS38-1.122.122", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6NS38-1.124.124", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6NS38-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6NS38-1.144.144", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 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": "Q6NS38-1.101.101", "start_pos": 101, "end_pos": 101, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] }, { "title": "Duplex interrogation by a direct DNA repair protein in search of base damage.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Yi C, Chen B, Qi B, Zhang W, Jia G, Zhang L, Li CJ, Dinner AR, Yang CG, He C", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "22659876", "url": "https://glygen.org/publication/PubMed/22659876" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22659876", "url": "https://glygen.org/publication/PubMed/22659876", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "IFQELEKEVEYFTGALARVQ", "down_seq": "FGKWHSVPRKQATYGDAGLT", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Decreases activity toward N1-methyladenine adduct in ssDNA. Has no effect on lesion repair in dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] }, { "sequence_org": "V", "sequence_mut": "G", "comment": "Loss of activity toward N1-methyladenine adduct in either ssDNA or dsDNA; when associated with A-102.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "22659876", "url": "https://glygen.org/publication/PubMed/22659876" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "upstream", "id": "Q6NS38-1.101.103", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NS38-1.102.102", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.101.103", "start_pos": 101, "end_pos": 103, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "VFG", "start_aa": "V", "up_seq": "IFQELEKEVEYFTGALARVQ", "down_seq": "KWHSVPRKQATYGDAGLTYT", "mutagenesis": [ { "sequence_org": "VFG", "sequence_mut": "RED", "comment": "Strong decrease of activity toward N1-methyladenine adduct in both ssDNA and dsDNA substrates.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "downstream", "id": "Q6NS38-1.101.101", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NS38-1.102.102", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6NS38-1.122.122", "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": "Q6NS38-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Duplex interrogation by a direct DNA repair protein in search of base damage.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Yi C, Chen B, Qi B, Zhang W, Jia G, Zhang L, Li CJ, Dinner AR, Yang CG, He C", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "22659876", "url": "https://glygen.org/publication/PubMed/22659876" } ] }, { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "22659876", "url": "https://glygen.org/publication/PubMed/22659876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FQELEKEVEYFTGALARVQV", "down_seq": "GKWHSVPRKQATYGDAGLTY", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strong decrease of activity toward N1-methyladenine adduct. Loss of activity toward N1-methyladenine adduct in either ssDNA or dsDNA; when associated with G-101.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "22659876", "url": "https://glygen.org/publication/PubMed/22659876" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q6NS38-1.101.101", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NS38-1.101.103", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6NS38-1.122.122", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EYFTGALARVQVFGKWHSVP", "down_seq": "KQATYGDAGLTYTFSGLTLS", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of activity toward N1-methyladenine adduct in either ssDNA or dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6NS38-1.101.101", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6NS38-1.101.103", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6NS38-1.102.102", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6NS38-1.122.122", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6NS38-1.124.124", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6NS38-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6NS38-1.130.130", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "FGKWHSVPRKQATYGDAGLT", "down_seq": "TFSGLTLSPKPWIPVLERIR", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases activity toward N1-methyladenine adduct in either ssDNA or dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6NS38-1.101.103", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "downstream", "id": "Q6NS38-1.102.102", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6NS38-1.124.124", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6NS38-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NS38-1.130.130", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KWHSVPRKQATYGDAGLTYT", "down_seq": "SGLTLSPKPWIPVLERIRDH", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of activity toward N1-methyladenine adduct in either ssDNA or dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6NS38-1.122.122", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NS38-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6NS38-1.130.130", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6NS38-1.144.144", "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": "Q6NS38-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WHSVPRKQATYGDAGLTYTF", "down_seq": "GLTLSPKPWIPVLERIRDHV", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Strong decrease of activity toward N1-methyladenine adduct in ssDNA. Has no effect on lesion repair in dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q6NS38-1.110.110", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6NS38-1.122.122", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NS38-1.124.124", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6NS38-1.130.130", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6NS38-1.144.144", "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": "Q6NS38-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ABH2 couples regulation of ribosomal DNA transcription with DNA alkylation repair.", "journal": "Cell reports", "date": "2013", "authors": "Li P, Gao S, Wang L, Yu F, Li J, Wang C, Li J, Wong J", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994" } ] }, { "title": "Repair of methylation damage in DNA and RNA by mammalian AlkB homologues.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lee DH, Jin SG, Cai S, Chen Y, Pfeifer GP, O'Connor TR", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "16174769", "url": "https://glygen.org/publication/PubMed/16174769" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16174769", "url": "https://glygen.org/publication/PubMed/16174769", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FNFVLINRYKDGCDHIGEHR", "down_seq": "DERELAPGSPIASVSFGACR", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of activity associated with decreased rDNA transcription.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994" }, { "database": "PubMed", "id": "16174769", "url": "https://glygen.org/publication/PubMed/16174769" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6NS38-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6NS38-1.175.175", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.175.175", "start_pos": 175, "end_pos": 175, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.", "journal": "Molecular bioSystems", "date": "2010", "authors": "Chen B, Liu H, Sun X, Yang CG", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "Reactome", "id": "R-HSA-112122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112122" } ], "reference": [ { "type": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FVLINRYKDGCDHIGEHRDD", "down_seq": "RELAPGSPIASVSFGACRDF", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "20714506", "url": "https://glygen.org/publication/PubMed/20714506" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q6NS38-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6NS38-1.173.173", "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": "Q6NS38-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Repair of methylation damage in DNA and RNA by mammalian AlkB homologues.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lee DH, Jin SG, Cai S, Chen Y, Pfeifer GP, O'Connor TR", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "16174769", "url": "https://glygen.org/publication/PubMed/16174769" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16174769", "url": "https://glygen.org/publication/PubMed/16174769", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LPLAHGSLLMMNHPTNTHWY", "down_seq": "SLPVRKKVLAPRVNLTFRKI", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreases activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "16174769", "url": "https://glygen.org/publication/PubMed/16174769" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6NS38-1.240.240", "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": "Q6NS38-1.38.40", "start_pos": 38, "end_pos": 40, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ABH2 couples regulation of ribosomal DNA transcription with DNA alkylation repair.", "journal": "Cell reports", "date": "2013", "authors": "Li P, Gao S, Wang L, Yu F, Li J, Wang C, Li J, Wong J", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RKR", "start_aa": "R", "up_seq": "EEQEPTGEEPAVLGGDKEST", "down_seq": "PRREAPGNGGHSAGPSWRHI", "mutagenesis": [ { "sequence_org": "RKR", "sequence_mut": "AAA", "comment": "Leads to cytoplasmic relocalization.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6NS38-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6NS38-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6NS38-1.52.52", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of a novel, widespread, and functionally important PCNA-binding motif.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Gilljam KM, Feyzi E, Aas PA, Sousa MM, Muller R, Vagbo CB, Catterall TC, Liabakk NB, Slupphaug G, Drablos F, Krokan HE, Otterlei M", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MD", "down_seq": "FLVKGAQGGLLRKQEEQEPT", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Impairs PCNA-binding. No effect on PCNA-binding; when associated with R-7.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q6NS38-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6NS38-1.5.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6NS38-1.7.7", "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": "Q6NS38-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of a novel, widespread, and functionally important PCNA-binding motif.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Gilljam KM, Feyzi E, Aas PA, Sousa MM, Muller R, Vagbo CB, Catterall TC, Liabakk NB, Slupphaug G, Drablos F, Krokan HE, Otterlei M", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] }, { "title": "The interaction between ALKBH2 DNA repair enzyme and PCNA is direct, mediated by the hydrophobic pocket of PCNA and perturbed in naturally-occurring ALKBH2 variants.", "journal": "DNA repair", "date": "2015", "authors": "Fu D, Samson LD, Hubscher U, van Loon B", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "26408825", "url": "https://glygen.org/publication/PubMed/26408825" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26408825", "url": "https://glygen.org/publication/PubMed/26408825", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "MDR", "down_seq": "LVKGAQGGLLRKQEEQEPTG", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Complete loss of PCNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" }, { "database": "PubMed", "id": "26408825", "url": "https://glygen.org/publication/PubMed/26408825" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "No effect on PCNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q6NS38-1.3.3", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NS38-1.5.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6NS38-1.7.7", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NS38-1.5.6", "start_pos": 5, "end_pos": 6, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of a novel, widespread, and functionally important PCNA-binding motif.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Gilljam KM, Feyzi E, Aas PA, Sousa MM, Muller R, Vagbo CB, Catterall TC, Liabakk NB, Slupphaug G, Drablos F, Krokan HE, Otterlei M", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "LV", "start_aa": "L", "up_seq": "MDRF", "down_seq": "KGAQGGLLRKQEEQEPTGEE", "mutagenesis": [ { "sequence_org": "LV", "sequence_mut": "AA", "comment": "Strong decrease in PCNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6NS38-1.3.3", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NS38-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NS38-1.7.7", "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": "Q6NS38-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of a novel, widespread, and functionally important PCNA-binding motif.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Gilljam KM, Feyzi E, Aas PA, Sousa MM, Muller R, Vagbo CB, Catterall TC, Liabakk NB, Slupphaug G, Drablos F, Krokan HE, Otterlei M", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "reference": [ { "type": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MDRFLV", "down_seq": "GAQGGLLRKQEEQEPTGEEP", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on PCNA-binding; when associated with K-3.", "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" }, { "database": "PubMed", "id": "19736315", "url": "https://glygen.org/publication/PubMed/19736315" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6NS38-1.3.3", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6NS38-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NS38-1.5.6", "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": "Q6NS38-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764488064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764488064", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764488064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764488064", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764488064", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764488064", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6NS38", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NS38", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "FSGLTLSPKPWIPVLERIRD", "down_seq": "VSGVTGQTFNFVLINRYKDG", "snv": [ { "evidence": [ { "id": "rs764488064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764488064" }, { "id": "rs764488064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764488064" }, { "id": "rs764488064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764488064" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HVS->NVS).", "chr_id": "12", "chr_pos": "109090058", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6NS38", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NS38" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "109090057", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H144", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6NS38-1.124.124", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q6NS38-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q6NS38-1.130.130", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6NS38-1.163.163", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q6NS38-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6NS38", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NS38", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DHVSGVTGQTFNFVLINRYK", "down_seq": "GCDHIGEHRDDERELAPGSP", "snv": [ { "evidence": [ { "id": "Q6NS38", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NS38" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "12", "chr_pos": "109088505", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D163", "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": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6NS38-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6NS38-1.173.173", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6NS38-1.175.175", "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": "Q6NS38-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6NS38", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NS38", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "HGSLLMMNHPTNTHWYHSLP", "down_seq": "RKKVLAPRVNLTFRKILLTK", "snv": [ { "evidence": [ { "id": "Q6NS38", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NS38" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "109088274", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V240", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6NS38-1.236.236", "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": "Q6NS38-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771439989", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771439989", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771439989", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771439989", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771439989", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771439989", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LRKQEEQEPTGEEPAVLGGD", "down_seq": "ESTRKRPRREAPGNGGHSAG", "snv": [ { "evidence": [ { "id": "rs771439989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771439989" }, { "id": "rs771439989", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771439989" }, { "id": "rs771439989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771439989" } ], "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": "12", "chr_pos": "109092685", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K34", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6NS38-1.38.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6NS38-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q6NS38-1.52.52", "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": "Q6NS38-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2499967412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2499967412", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LGGDKESTRKRPRREAPGNG", "down_seq": "HSAGPSWRHIRAEGLDCSYT", "snv": [ { "evidence": [ { "id": "rs2499967412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2499967412" } ], "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": "12", "chr_pos": "109092639", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G50", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q6NS38-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q6NS38-1.38.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6NS38-1.52.52", "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": "Q6NS38-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q6NS38-1", "length": 261, "uniprot_id": "ALKB2_HUMAN", "protein_name": "DNA oxidative demethylase ALKBH2", "refseq_ac": "NP_001001655", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "gene_name": "ALKBH2", "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NS38", "url": "https://www.uniprot.org/uniprotkb/Q6NS38" } ], "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": "Q6NS38-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NS38-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q6NS38", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NS38", "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": "GDKESTRKRPRREAPGNGGH", "down_seq": "AGPSWRHIRAEGLDCSYTVL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6NS38", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NS38" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser52" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "101", "end_pos": "103" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "38", "end_pos": "40" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" } ] }, { "type": "snv", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "50", "end_pos": "50" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q6NS38-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q6NS38-1.38.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6NS38-1.50.50", "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": "Q2TAC2-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "database": "O-GlcNAc Atlas", "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ], "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "database": "O-GlcNAc Atlas", "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs373266285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373266285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373266285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373266285", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373266285", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373266285#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373266285", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373266285", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs773814124", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773814124", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773814124", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773814124", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773814124", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773814124#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773814124", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773814124", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VKLLHKELEALKEAGAKAAE", "down_seq": "LQRAEATNAELERKLQSRAG", "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": "Ser227", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q2TAC2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q2TAC2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ] } ], "snv": [ { "evidence": [ { "id": "rs373266285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373266285" }, { "id": "rs373266285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373266285" }, { "id": "rs373266285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373266285#frequency_tab" }, { "id": "rs373266285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373266285" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "17", "chr_pos": "82194079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373266285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373266285" }, { "id": "rs373266285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373266285" }, { "id": "rs373266285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373266285#frequency_tab" }, { "id": "rs373266285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373266285" } ], "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": "17", "chr_pos": "82194079", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773814124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773814124" }, { "id": "rs773814124", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773814124" }, { "id": "rs773814124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773814124#frequency_tab" }, { "id": "rs773814124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773814124" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "17", "chr_pos": "82194078", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S227", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q2TAC2-1.575.575", "start_pos": 575, "end_pos": 575, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "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": "TAAESTDANQPDPEAGGDAA", "down_seq": "PDYVLALEAEIRTLKHKFKT", "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": "Thr575", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.626.626", "start_pos": 626, "end_pos": 626, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "database": "O-GlcNAc Atlas", "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ], "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "database": "O-GlcNAc Atlas", "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs116714093", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116714093", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs116714093", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116714093", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs116714093", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116714093", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs116714093", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116714093#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs116714093", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116714093", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PLKMSSPHAESQPSVRTSTE", "down_seq": "TGGSAQAGQAGGSVQAGQAG", "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": "Thr626", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q2TAC2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q2TAC2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ] } ], "snv": [ { "evidence": [ { "id": "rs116714093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116714093" }, { "id": "rs116714093", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116714093" }, { "id": "rs116714093", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116714093" }, { "id": "rs116714093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116714093#frequency_tab" }, { "id": "rs116714093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116714093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "17", "chr_pos": "82171706", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00745683", "site_lbl": "T626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q2TAC2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2" }, { "id": "rs116714093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116714093" }, { "id": "rs116714093", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116714093" }, { "id": "rs116714093", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116714093" }, { "id": "rs116714093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116714093#frequency_tab" }, { "id": "rs116714093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116714093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "17", "chr_pos": "82171706", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T626", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q2TAC2-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q2TAC2-1.639.639", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q2TAC2-1.639.639", "start_pos": 639, "end_pos": 639, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "database": "O-GlcNAc Atlas", "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ], "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "database": "O-GlcNAc Atlas", "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "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": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q2TAC2", "url": "https://oglcnac.org/atlas/detail/Q2TAC2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVRTSTETTGGSAQAGQAGG", "down_seq": "VQAGQAGGSVQAGPVSSGLA", "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": "Ser639", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q2TAC2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TAC2" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q2TAC2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q2TAC2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q2TAC2-1.626.626", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q2TAC2-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q2TAC2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "IEAAKLRQALAREARKVEEL", "down_seq": "QQQQLAFQEHRLELERVHSD", "snv": [ { "evidence": [ { "id": "Q2TAC2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "17", "chr_pos": "82201595", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q117", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID: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": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1237534384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237534384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1237534384", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237534384#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SKMRKREHEFRLQADNMSNT", "down_seq": "LSRELKVKLLHKELEALKEA", "snv": [ { "evidence": [ { "id": "rs1237534384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237534384" }, { "id": "rs1237534384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237534384#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "17", "chr_pos": "82195283", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A200", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q2TAC2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RAEWRQADTAKEKDAAIDQL", "down_seq": "EDASTVKSAWDAQIAQLSKE", "snv": [ { "evidence": [ { "id": "Q2TAC2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2" } ], "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": "17", "chr_pos": "82183928", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R353", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID: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": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q2TAC2-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q2TAC2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs752746987", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752746987", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752746987", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752746987", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752746987", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752746987#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752746987", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752746987", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs752746987", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752746987", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EWRQADTAKEKDAAIDQLRE", "down_seq": "ASTVKSAWDAQIAQLSKEMV", "snv": [ { "evidence": [ { "id": "Q2TAC2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2" }, { "id": "rs752746987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752746987" }, { "id": "rs752746987", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752746987" }, { "id": "rs752746987", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752746987#frequency_tab" }, { "id": "rs752746987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752746987" }, { "id": "rs752746987", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752746987" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "17", "chr_pos": "82183922", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D355", "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", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q2TAC2-1.353.353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q2TAC2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RSQQDIERYKQQLSLAVERE", "down_seq": "SLERDQVQLGLDWQRRCDDI", "snv": [ { "evidence": [ { "id": "Q2TAC2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "82179152", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R417", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.535.535", "start_pos": 535, "end_pos": 535, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1480672842", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480672842", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1480672842", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480672842#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DFPSSEIQRLREQNTSLRNA", "down_seq": "AQMRKEMEALSHQIPPPIQT", "snv": [ { "evidence": [ { "id": "rs1480672842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480672842" }, { "id": "rs1480672842", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480672842#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "17", "chr_pos": "82172763", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I535", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.608.608", "start_pos": 608, "end_pos": 608, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1273954813", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273954813", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1273954813", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273954813", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TLKHKFKTLEKHLEDVLDPL", "down_seq": "MSSPHAESQPSVRTSTETTG", "snv": [ { "evidence": [ { "id": "rs1273954813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273954813" }, { "id": "rs1273954813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273954813" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "17", "chr_pos": "82171759", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K608", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q2TAC2-1.626.626", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q2TAC2-1.676.676", "start_pos": 676, "end_pos": 676, "uniprot_canonical_ac": "Q2TAC2-1", "length": 915, "uniprot_id": "CCD57_HUMAN", "protein_name": "Coiled-coil domain-containing protein 57", "refseq_ac": "NP_001303250", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "gene_name": "CCDC57", "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAC2", "url": "https://www.uniprot.org/uniprotkb/Q2TAC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q2TAC2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SGLALRKLGDRVQLLNLLVT", "down_seq": "LRQKVLREPLEPAALQRELP", "snv": [ { "evidence": [ { "id": "Q2TAC2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q2TAC2" } ], "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": "17", "chr_pos": "82163214", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R676", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "227", "end_pos": "227" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "639", "end_pos": "639" } ] }, { "type": "snv", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "676", "end_pos": "676" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UH92-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UH92", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DDEDSDYHQEAYKESYKDRR", "down_seq": "RAHTQAEQKRRDAIKRGYDD", "snv": [ { "evidence": [ { "id": "Q9UH92", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92" } ], "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": "17", "chr_pos": "42568896", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R131", "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": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9UH92-1.133.133", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UH92-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UH92", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EDSDYHQEAYKESYKDRRRR", "down_seq": "HTQAEQKRRDAIKRGYDDLQ", "snv": [ { "evidence": [ { "id": "Q9UH92", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92" } ], "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 (5).", "chr_id": "17", "chr_pos": "42568902", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A133", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UH92-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UH92-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UH92", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DYIQFLHKEKKKQEEEVSTL", "down_seq": "KDVTALKIMKVNYEQIVKAH", "snv": [ { "evidence": [ { "id": "Q9UH92", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "17", "chr_pos": "42569572", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R202", "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:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9UH92", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UH92" } ], "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": "42569573", "ref_nt": "G", "alt_nt": "A", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q9UH92-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRAGRARARRGAGRRGASLL", "down_seq": "PKSPTLSVPRGCREDSSHPA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "site_lbl": "Ser45" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9UH92-1.48.48", "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": "Q9UH92-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRARARRGAGRRGASLLSPK", "down_seq": "PTLSVPRGCREDSSHPACAK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "site_lbl": "Ser48" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9UH92-1.45.45", "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": "Q9UH92-1.74.74", "start_pos": 74, "end_pos": 74, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "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": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRGCREDSSHPACAKVEYAY", "down_seq": "DNSLDPGLFVESTRKGSVVS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "site_lbl": "Ser74" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9UH92-1.77.77", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UH92-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "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": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CREDSSHPACAKVEYAYSDN", "down_seq": "LDPGLFVESTRKGSVVSRAN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "site_lbl": "Ser77" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9UH92-1.74.74", "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": "Q9UH92-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "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": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MTEPGA", "down_seq": "PEDPWVKASPVGAHAGEGRA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "site_lbl": "Ser7" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "Q9UH92-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q9UH92-1", "length": 298, "uniprot_id": "MLX_HUMAN", "protein_name": "Max-like protein X", "refseq_ac": "NP_733752", "refseq_name": "max-like protein X isoform gamma", "gene_name": "MLX", "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" } ], "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": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDPGLFVESTRKGSVVSRAN", "down_seq": "IGSTSASSVPNTDDEDSDYH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UH92", "url": "https://www.uniprot.org/uniprotkb/Q9UH92" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UH92", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UH92" } ], "site_lbl": "Ser98" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "202", "end_pos": "202" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "45", "end_pos": "45" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "O00308-1.277.277", "start_pos": 277, "end_pos": 277, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "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": "rs199723151", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199723151", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199723151", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199723151", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs199723151", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199723151", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199723151", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199723151#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199723151", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199723151", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PAAPLSVTPNPNTTSLPAPA", "down_seq": "PAEGEEPSTSGTQQLPAAAQ", "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": "Thr277", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs199723151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199723151" }, { "id": "rs199723151", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199723151" }, { "id": "rs199723151", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199723151" }, { "id": "rs199723151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199723151#frequency_tab" }, { "id": "rs199723151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199723151" } ], "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": "16", "chr_pos": "69888164", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T277", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "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": "O00308-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00308", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00308" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "crossref": [ { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O00308", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00308", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "O00308", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00308" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "O00308-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O00308-1.7.7", "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": "O00308-1.498.498", "start_pos": 498, "end_pos": 498, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SCFFBXL(1)(5) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1.", "journal": "The EMBO journal", "date": "2011", "authors": "Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "reference": [ { "type": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] } ], "crossref": [ { "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GFESGTKQGSPGAYDRSFRW", "down_seq": "YHQFRFLCHSNALPSHVKIS", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect FBXL15-mediated ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O00308-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O00308-1.500.500", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O00308-1.518.518", "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": "O00308-1.500.500", "start_pos": 500, "end_pos": 500, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "SCFFBXL(1)(5) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1.", "journal": "The EMBO journal", "date": "2011", "authors": "Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "reference": [ { "type": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] } ], "crossref": [ { "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "ESGTKQGSPGAYDRSFRWKY", "down_seq": "QFRFLCHSNALPSHVKISVS", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "K", "comment": "Does not affect FBXL15-mediated ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O00308-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O00308-1.498.498", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O00308-1.518.518", "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": "O00308-1.838.838", "start_pos": 838, "end_pos": 838, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "WWP2 promotes degradation of transcription factor OCT4 in human embryonic stem cells.", "journal": "Cell research", "date": "2009", "authors": "Xu H, Wang W, Li C, Yu H, Yang A, Wang B, Jin Y", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "reference": [ { "type": "PubMed", "id": "19274063", "url": "https://glygen.org/publication/PubMed/19274063" } ] } ], "crossref": [ { "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19274063", "url": "https://glygen.org/publication/PubMed/19274063", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "PQKFCIDKVGKETWLPRSHT", "down_seq": "FNRLDLPPYKSYEQLREKLL", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ubiquitination of POU5F1.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "PubMed", "id": "19274063", "url": "https://glygen.org/publication/PubMed/19274063" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "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": "O00308-1.468.468", "start_pos": 468, "end_pos": 468, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs777143460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777143460", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777143460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777143460", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777143460", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777143460#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777143460", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777143460", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs777143460", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777143460", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PGWEMKYTSEGVRYFVDHNT", "down_seq": "TTTFKDPRPGFESGTKQGSP", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" }, { "id": "rs777143460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777143460" }, { "id": "rs777143460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777143460" }, { "id": "rs777143460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777143460#frequency_tab" }, { "id": "rs777143460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777143460" }, { "id": "rs777143460", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777143460" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NTR->NTC).", "chr_id": "16", "chr_pos": "69930215", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R468", "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", "ebi" ] }, { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTS).", "chr_id": "16", "chr_pos": "69930215", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R468", "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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O00308-1.455.455", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O00308-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O00308-1.467.467", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O00308-1.469.469", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O00308-1.483.483", "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": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1466934089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466934089", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1466934089", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466934089#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1466934089", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466934089", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RNELLGTASVNLSNVLKNNG", "down_seq": "KMENMQLTLNLQTENKGSVV", "snv": [ { "evidence": [ { "id": "rs1466934089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466934089" }, { "id": "rs1466934089", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466934089#frequency_tab" }, { "id": "rs1466934089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466934089" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGC).", "chr_id": "16", "chr_pos": "69799289", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G112", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "O00308-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O00308-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1313360451", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313360451", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1313360451", "url": "https://www.ensembl.org/id/rs1313360451", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NNGGKMENMQLTLNLQTENK", "down_seq": "SVVSGGELTIFLDGPTVDLG", "snv": [ { "evidence": [ { "id": "rs1313360451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313360451" }, { "id": "rs1313360451", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1313360451" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKC).", "chr_id": "16", "chr_pos": "69840170", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G129", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O00308-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O00308-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O00308-1.143.143", "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": "O00308-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GGKMENMQLTLNLQTENKGS", "down_seq": "VSGGELTIFLDGPTVDLGNV", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "V", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "16", "chr_pos": "69840177", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V131", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O00308-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O00308-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O00308-1.143.143", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "O00308-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LQTENKGSVVSGGELTIFLD", "down_seq": "PTVDLGNVPNGSALTDGSQL", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "69840212", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "G143", "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: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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O00308-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O00308-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O00308-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1473094766", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473094766", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1473094766", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1473094766#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1473094766", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1473094766", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IFLDGPTVDLGNVPNGSALT", "down_seq": "GSQLPSRDSSGTAVAPENRH", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" }, { "id": "rs1473094766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473094766" }, { "id": "rs1473094766", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1473094766#frequency_tab" }, { "id": "rs1473094766", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1473094766" } ], "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 (DGS->NGS).", "chr_id": "16", "chr_pos": "69840260", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D159", "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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O00308-1.143.143", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765437085", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765437085", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765437085", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765437085", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765437085", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765437085#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765437085", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765437085", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "DSSGTAVAPENRHQPPSTNC", "down_seq": "GGRSRTHRHSGASARTTPAT", "snv": [ { "evidence": [ { "id": "rs765437085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765437085" }, { "id": "rs765437085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765437085" }, { "id": "rs765437085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765437085#frequency_tab" }, { "id": "rs765437085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765437085" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCF->NCC).", "chr_id": "16", "chr_pos": "69842105", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F187", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1343185158", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343185158", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1343185158", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343185158", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ATGEQSPGARSRHRQPVKNS", "down_seq": "HSGLANGTVNDEPTTATDPE", "snv": [ { "evidence": [ { "id": "rs1343185158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343185158" }, { "id": "rs1343185158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343185158" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "16", "chr_pos": "69871904", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G226", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O00308-1.211.211", "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": "O00308-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs377619443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377619443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377619443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377619443", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377619443", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377619443#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377619443", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377619443", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs377619443", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377619443", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AAQAPDALPAGWEQRELPNG", "down_seq": "VYYVDHNTKTTTWERPLPPG", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" }, { "id": "rs377619443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377619443" }, { "id": "rs377619443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377619443" }, { "id": "rs377619443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377619443#frequency_tab" }, { "id": "rs377619443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377619443" }, { "id": "rs377619443", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377619443" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGC).", "chr_id": "16", "chr_pos": "69908789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R315", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "O00308-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O00308-1.325.325", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs562325074", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562325074", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs562325074", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562325074", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs562325074", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562325074", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs562325074", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562325074#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs562325074", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562325074", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AGWEQRELPNGRVYYVDHNT", "down_seq": "TTTWERPLPPGWEKRTDPRG", "snv": [ { "evidence": [ { "id": "rs562325074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562325074" }, { "id": "rs562325074", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562325074" }, { "id": "rs562325074", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562325074" }, { "id": "rs562325074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562325074#frequency_tab" }, { "id": "rs562325074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562325074" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "16", "chr_pos": "69908818", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K324", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O00308-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O00308-1.325.325", "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": "O00308-1.325.325", "start_pos": 325, "end_pos": 325, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2058338315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058338315", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2058338315", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2058338315#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GWEQRELPNGRVYYVDHNTK", "down_seq": "TTWERPLPPGWEKRTDPRGR", "snv": [ { "evidence": [ { "id": "rs2058338315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058338315" }, { "id": "rs2058338315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2058338315#frequency_tab" } ], "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": "16", "chr_pos": "69908820", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T325", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O00308-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O00308-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.398.398", "start_pos": 398, "end_pos": 398, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QLQGAMQHFSQRFLYQSSSA", "down_seq": "TDHDPLGPLPPGWEKRQDNG", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "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": "16", "chr_pos": "69925443", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S398", "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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs527319187", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527319187", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs527319187", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527319187", "database": "1000Genomes", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PLPPGWEKRQDNGRVYYVNH", "down_seq": "TRTTQWEDPRTQGMIQEPAL", "snv": [ { "evidence": [ { "id": "rs527319187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527319187" }, { "id": "rs527319187", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527319187" } ], "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": "16", "chr_pos": "69929490", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N426", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O00308-1.428.428", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.428.428", "start_pos": 428, "end_pos": 428, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1163346636", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163346636", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1163346636", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163346636", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PPGWEKRQDNGRVYYVNHNT", "down_seq": "TTQWEDPRTQGMIQEPALPP", "snv": [ { "evidence": [ { "id": "rs1163346636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163346636" }, { "id": "rs1163346636", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163346636" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTC).", "chr_id": "16", "chr_pos": "69929495", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R428", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O00308-1.426.426", "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": "O00308-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MIQEPALPPGWEMKYTSEGV", "down_seq": "YFVDHNTRTTTFKDPRPGFE", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "69930191", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R460", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O00308-1.455.455", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O00308-1.467.467", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O00308-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O00308-1.469.469", "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": "O00308-1.483.483", "start_pos": 483, "end_pos": 483, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VDHNTRTTTFKDPRPGFESG", "down_seq": "KQGSPGAYDRSFRWKYHQFR", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "69931154", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T483", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O00308-1.467.467", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O00308-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O00308-1.469.469", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O00308-1.498.498", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O00308-1.500.500", "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": "O00308-1.518.518", "start_pos": 518, "end_pos": 518, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774557900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774557900", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774557900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774557900", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774557900", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774557900#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774557900", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774557900", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KYHQFRFLCHSNALPSHVKI", "down_seq": "VSRQTLFEDSFQQIMNMKPY", "snv": [ { "evidence": [ { "id": "rs774557900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774557900" }, { "id": "rs774557900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774557900" }, { "id": "rs774557900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774557900#frequency_tab" }, { "id": "rs774557900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774557900" } ], "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 (SVS->NVS).", "chr_id": "16", "chr_pos": "69931540", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S518", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O00308-1.498.498", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O00308-1.500.500", "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": "O00308-1.587.587", "start_pos": 587, "end_pos": 587, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs78843422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78843422", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs78843422", "url": "https://www.ensembl.org/id/rs78843422", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LSHEVLNPMYCLFEYAGKNN", "down_seq": "CLQINPASSINPDHLTYFRF", "snv": [ { "evidence": [ { "id": "rs78843422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78843422" }, { "id": "rs78843422", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs78843422" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNY->NNS).", "chr_id": "16", "chr_pos": "69934047", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y587", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "O00308-1.606.606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NSYVEVAVDGLPSETKKTGK", "down_seq": "IGSSELLWNEIIILNVTAQS", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "69798787", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R59", "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" } ] }, { "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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O00308-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O00308-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O00308-1.76.76", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs936547731", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936547731", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs936547731", "url": "https://www.ncbi.nlm.nih.gov/snp/rs936547731#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs936547731", "url": "http://gnomad.broadinstitute.org/awesome?query=rs936547731", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MASA", "down_seq": "SSRAGVALPFEKSQLTLKVV", "snv": [ { "evidence": [ { "id": "rs936547731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936547731" }, { "id": "rs936547731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs936547731#frequency_tab" }, { "id": "rs936547731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs936547731" } ], "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": "16", "chr_pos": "69787024", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S5", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O00308-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O00308-1.7.7", "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": "O00308-1.606.606", "start_pos": 606, "end_pos": 606, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NYCLQINPASSINPDHLTYF", "down_seq": "FIGRFIAMALYHGKFIDTGF", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "69934103", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R606", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O00308-1.587.587", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1291907818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291907818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1291907818", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291907818", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SYVEVAVDGLPSETKKTGKR", "down_seq": "GSSELLWNEIIILNVTAQSH", "snv": [ { "evidence": [ { "id": "rs1291907818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291907818" }, { "id": "rs1291907818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291907818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IGS->NGS).", "chr_id": "16", "chr_pos": "69798790", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I60", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O00308-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O00308-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O00308-1.76.76", "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": "O00308-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780694295", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780694295", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780694295", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780694295", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780694295", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780694295", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PSETKKTGKRIGSSELLWNE", "down_seq": "IILNVTAQSHLDLKVWSCHT", "snv": [ { "evidence": [ { "id": "rs780694295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780694295" }, { "id": "rs780694295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780694295" }, { "id": "rs780694295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780694295" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEI->NES).", "chr_id": "16", "chr_pos": "69798820", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I70", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O00308-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O00308-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O00308-1.76.76", "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": "O00308-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TGKRIGSSELLWNEIIILNV", "down_seq": "AQSHLDLKVWSCHTLRNELL", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "69799182", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T76", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O00308-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O00308-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O00308-1.70.70", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.811.811", "start_pos": 811, "end_pos": 811, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00308", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RIRLLQFVTGTCRLPVGGFA", "down_seq": "LIGSNGPQKFCIDKVGKETW", "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "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": "16", "chr_pos": "69939114", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E811", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00308-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "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": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SRTHRHSGASARTTPATGEQ", "down_seq": "PGARSRHRQPVKNSGHSGLA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser211" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "O00308-1.226.226", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O00308-1.369.369", "start_pos": 369, "end_pos": 369, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Enzymatic analysis of WWP2 E3 ubiquitin ligase using protein microarrays identifies autophagy-related substrates.", "journal": "The Journal of biological chemistry", "date": "2022", "authors": "Jiang H, Chiang CY, Chen Z, Nathan S, D'Agostino G, Paulo JA, Song G, Zhu H, Gabelli SB, Cole PA", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" } ], "reference": [ { "type": "PubMed", "id": "35331737", "url": "https://glygen.org/publication/PubMed/35331737" } ] } ], "crossref": [ { "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35331737", "url": "https://glygen.org/publication/PubMed/35331737", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VDHNTRTTTWQRPTAEYVRN", "down_seq": "EQWQSQRNQLQGAMQHFSQR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "35331737", "url": "https://glygen.org/publication/PubMed/35331737" } ], "site_lbl": "Tyr369" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O00308-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "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": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308", "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": "PRTQGMIQEPALPPGWEMKY", "down_seq": "SEGVRYFVDHNTRTTTFKDP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr455" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "O00308-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O00308-1.467.467", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O00308-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O00308-1.469.469", "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": "O00308-1.467.467", "start_pos": 467, "end_pos": 467, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "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": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308", "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": "PPGWEMKYTSEGVRYFVDHN", "down_seq": "RTTTFKDPRPGFESGTKQGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr467" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O00308-1.455.455", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O00308-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O00308-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O00308-1.469.469", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O00308-1.483.483", "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": "O00308-1.469.469", "start_pos": 469, "end_pos": 469, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GWEMKYTSEGVRYFVDHNTR", "down_seq": "TTFKDPRPGFESGTKQGSPG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr469" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O00308-1.455.455", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O00308-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O00308-1.467.467", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O00308-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O00308-1.483.483", "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": "O00308-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "O00308-1", "length": 870, "uniprot_id": "WWP2_HUMAN", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "refseq_ac": "NP_001257382", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "gene_name": "WWP2", "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprotkb/O00308" } ], "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": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308", "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": "MASASS", "down_seq": "RAGVALPFEKSQLTLKVVSA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser7" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "277", "end_pos": "277" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "498", "end_pos": "498" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "838", "end_pos": "838" } ] }, { "type": "snv", "site_list": [ { "start_pos": "468", "end_pos": "468" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "811", "end_pos": "811" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O00308-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O00308-1.5.5", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P18084-1.197.206", "start_pos": 197, "end_pos": 206, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "YQTNPCIGYK", "start_aa": "Y", "up_seq": "LGFGSFVDKDISPFSYTAPR", "down_seq": "LFPNCVPSFGFRHLLPLTDR", "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": "YQTNPCIGYK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Tyr", "end_aa": "Lys", "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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "P18084-1.199.199", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P18084-1.201.201", "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": "P18084-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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" ] }, { "id": "rs1256073315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256073315", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1256073315", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1256073315", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FGSFVDKDISPFSYTAPRYQ", "down_seq": "NPCIGYKLFPNCVPSFGFRH", "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": "Thr199", "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" } ] } ], "snv": [ { "evidence": [ { "id": "rs1256073315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256073315" }, { "id": "rs1256073315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1256073315" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "124848325", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T199", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P18084-1.197.206", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P18084-1.201.201", "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": "P18084-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GlyConnect", "id": "1418", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1418", "url": "https://glyconnect.expasy.org/browser/proteins/1418", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "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": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs2107551944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2107551944", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2107551944", "url": "https://www.ensembl.org/id/rs2107551944", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AENNINLIFAVTKNHYMLYK", "down_seq": "FTALIPGTTVEILDGDSKNI", "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "G28541PG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "G48584BU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G51653BI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G94390IS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nFTALIPGTTVEILDGDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "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": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs2107551944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2107551944" }, { "id": "rs2107551944", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2107551944" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "3", "chr_pos": "124817709", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N347", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P18084-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P18084-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P18084-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P18084-1.358.358", "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": 16 }, { "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": 15 }, { "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": 15 } ], "sort_fields": [ "glytoucan_ac", "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": 15 }, { "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": 15 }, { "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": 15 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P18084-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1330788299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330788299", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1330788299", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330788299#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1330788299", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330788299", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HVFALRPVGFRDSLEVGVTY", "down_seq": "CTCGCSVGLEPNSARCNGSG", "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": "Asn460", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" }, { "id": "rs1330788299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330788299" }, { "id": "rs1330788299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330788299#frequency_tab" }, { "id": "rs1330788299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330788299" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCT->DCT).", "chr_id": "3", "chr_pos": "124796703", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N460", "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" ] }, { "evidence": [ { "id": "rs1330788299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330788299" }, { "id": "rs1330788299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330788299#frequency_tab" }, { "id": "rs1330788299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330788299" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->YCT).", "chr_id": "3", "chr_pos": "124796703", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N460", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P18084-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P18084-1.474.474", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P18084-1.477.477", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "P18084-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs367812483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367812483", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs367812483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367812483", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs367812483", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367812483#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs367812483", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367812483", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2291087", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2291087", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2291087", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2291087", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs2291087", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2291087", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs2291087", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2291087#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2291087", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2291087", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VTYNCTCGCSVGLEPNSARC", "down_seq": "GSGTYVCGLCECSPGYLGTR", "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CnGSGTYVCGLCECSPGYLGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CnGSGTYVCGLCECSPGYLGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "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": "CnGSGTYVCGLCECSPGYLGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "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": "CnGSGTYVCGLCECSPGYLGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "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": "CNGSGTYVCGLCECSPGYLGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "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": "Asn477", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs367812483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367812483" }, { "id": "rs367812483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367812483" }, { "id": "rs367812483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367812483#frequency_tab" }, { "id": "rs367812483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367812483" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "3", "chr_pos": "124796650", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N477", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2291087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2291087" }, { "id": "rs2291087", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2291087" }, { "id": "rs2291087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2291087" }, { "id": "rs2291087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2291087#frequency_tab" }, { "id": "rs2291087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2291087" } ], "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": "3", "chr_pos": "124796651", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N477", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P18084-1.460.460", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P18084-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P18084-1.474.474", "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": 6 }, { "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": 5 }, { "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": 5 } ], "sort_fields": [ "glytoucan_ac", "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": 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": 5 }, { "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": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P18084-1.505.505", "start_pos": 505, "end_pos": 505, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GLCECSPGYLGTRCECQDGE", "down_seq": "QSVYQNLCREAEGKPLCSGR", "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": "CECQDGENQSVYQNLCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn505", "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": "Asn505", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P18084-1.507.507", "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": "P18084-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1445316857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445316857", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1445316857", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445316857#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1445316857", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445316857", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QCSCFESEFGKIYGPFCECD", "down_seq": "FSCARNKGVLCSGHGECHCG", "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IYGPFCECDNFSCAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn552", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_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": "Asn552", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1445316857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445316857" }, { "id": "rs1445316857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445316857#frequency_tab" }, { "id": "rs1445316857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445316857" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "3", "chr_pos": "124796426", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N552", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P18084-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P18084-1.554.554", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P18084-1.586.586", "start_pos": 586, "end_pos": 586, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GlyConnect", "id": "1418", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "crossref": [ { "id": "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": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1418", "url": "https://glyconnect.expasy.org/browser/proteins/1418", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "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": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "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": "23090970", "url": "https://glygen.org/publication/PubMed/23090970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1327646822", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327646822", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1327646822", "url": "https://www.ensembl.org/id/rs1327646822", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HGECHCGECKCHAGYIGDNC", "down_seq": "CSTDISTCRGRDGQICSERG", "glycosylation": [ { "glytoucan_ac": "G01485JJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G05049YU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G28541PG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G39446WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G57317CE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G57776ZU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1418", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1418" } ] }, { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "CHAGYIGDNCNCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CHAGYIGDNCnCSTDISTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn586", "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": "Asn586", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#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" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "snv": [ { "evidence": [ { "id": "rs1327646822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327646822" }, { "id": "rs1327646822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1327646822" } ], "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": "124773850", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N586", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P18084-1.588.588", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P18084-1.605.605", "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": 21 }, { "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": 20 }, { "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": 20 } ], "sort_fields": [ "glytoucan_ac", "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": 20 }, { "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": 20 }, { "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": 20 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P18084-1.654.654", "start_pos": 654, "end_pos": 654, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "crossref": [ { "id": "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": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "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": "23090970", "url": "https://glygen.org/publication/PubMed/23090970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2063806105", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2063806105", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2063806105", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2063806105#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ACSTKRDCVECLLLHSGKPD", "down_seq": "QTCHSLCRDEVITWVDTIVK", "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": "RDCVECLLLHSGKPDNQTCHSLCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn654", "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": "Asn654", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#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" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "snv": [ { "evidence": [ { "id": "rs2063806105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2063806105" }, { "id": "rs2063806105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2063806105#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->DQT).", "chr_id": "3", "chr_pos": "124769070", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N654", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P18084-1.655.655", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P18084-1.656.656", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P18084-1.705.705", "start_pos": 705, "end_pos": 705, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KTAKDCVMMFTYVELPSGKS", "down_seq": "LTVLREPECGNTPNAMTILL", "glycosylation": [ { "glytoucan_ac": "G28541PG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNLTVLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn705", "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": "Asn705", "evidence": [ { "id": "P18084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18084#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P18084-1.691.691", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P18084-1.707.707", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P18084-1.718.718", "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": "P18084-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "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": "P18084", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P18084" } ], "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": "P18084", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P18084", "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": "P18084", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P18084" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "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": "P18084-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PQEIAVNLRPGDKTTFQLQV", "down_seq": "QVEDYPVDLYYLMDLSLSMK", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "124848529", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R131", "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: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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VDLYYLMDLSLSMKDDLDNI", "down_seq": "SLGTKLAEEMRKLTSNFRLG", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "124848448", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R158", "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:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs144080564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144080564", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs144080564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144080564", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs144080564", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144080564#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs144080564", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144080564", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SFVDKDISPFSYTAPRYQTN", "down_seq": "CIGYKLFPNCVPSFGFRHLL", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" }, { "id": "rs144080564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144080564" }, { "id": "rs144080564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144080564" }, { "id": "rs144080564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144080564#frequency_tab" }, { "id": "rs144080564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144080564" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "3", "chr_pos": "124848318", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P201", "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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P18084-1.197.206", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P18084-1.199.199", "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": "P18084-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1420297622", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420297622", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1420297622", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420297622", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KLGGLVQPHDGQCHLNEANE", "down_seq": "TASNQMDYPSLALLGEKLAE", "snv": [ { "evidence": [ { "id": "rs1420297622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420297622" }, { "id": "rs1420297622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420297622" } ], "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": "3", "chr_pos": "124821332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y308", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P18084-1.314.314", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1003599976", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003599976", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1003599976", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003599976#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "QPHDGQCHLNEANEYTASNQ", "down_seq": "DYPSLALLGEKLAENNINLI", "snv": [ { "evidence": [ { "id": "rs1003599976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003599976" }, { "id": "rs1003599976", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003599976#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQM->NQT).", "chr_id": "3", "chr_pos": "124821314", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M314", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P18084-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P18084-1.332.332", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1559951581", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559951581", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1559951581", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1559951581#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NQMDYPSLALLGEKLAENNI", "down_seq": "LIFAVTKNHYMLYKNFTALI", "snv": [ { "evidence": [ { "id": "rs1559951581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559951581" }, { "id": "rs1559951581", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1559951581#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "3", "chr_pos": "124819782", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N332", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P18084-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P18084-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P18084-1.347.347", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P18084-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs367801042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367801042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs367801042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367801042", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs367801042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367801042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LGEKLAENNINLIFAVTKNH", "down_seq": "MLYKNFTALIPGTTVEILDG", "snv": [ { "evidence": [ { "id": "rs367801042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367801042" }, { "id": "rs367801042", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367801042" }, { "id": "rs367801042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367801042" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHY->NHC).", "chr_id": "3", "chr_pos": "124819752", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y342", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P18084-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P18084-1.347.347", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P18084-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P18084-1.358.358", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.349.349", "start_pos": 349, "end_pos": 349, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1223690188", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223690188", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1223690188", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223690188#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1223690188", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223690188", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NNINLIFAVTKNHYMLYKNF", "down_seq": "ALIPGTTVEILDGDSKNIIQ", "snv": [ { "evidence": [ { "id": "rs1223690188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223690188" }, { "id": "rs1223690188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223690188#frequency_tab" }, { "id": "rs1223690188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223690188" } ], "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 (NFT->NFP).", "chr_id": "3", "chr_pos": "124817704", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T349", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P18084-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P18084-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P18084-1.347.347", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P18084-1.358.358", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1384841473", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384841473", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1384841473", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384841473", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GLCALLPRLAGLNICTSGSA", "down_seq": "SCEECLLIHPKCAWCSKEDF", "snv": [ { "evidence": [ { "id": "rs1384841473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384841473" }, { "id": "rs1384841473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384841473" } ], "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 (TSC->NSC).", "chr_id": "3", "chr_pos": "124873501", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T34", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TKNHYMLYKNFTALIPGTTV", "down_seq": "ILDGDSKNIIQLIINAYNSI", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "124817675", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E358", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P18084-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P18084-1.347.347", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P18084-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.396.396", "start_pos": 396, "end_pos": 396, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NSIRSKVELSVWDQPEDLNL", "down_seq": "FTATCQDGVSYPGQRKCEGL", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLF->NLS).", "chr_id": "3", "chr_pos": "124809098", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F396", "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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.462.462", "start_pos": 462, "end_pos": 462, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774939398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774939398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774939398", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774939398", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FALRPVGFRDSLEVGVTYNC", "down_seq": "CGCSVGLEPNSARCNGSGTY", "snv": [ { "evidence": [ { "id": "rs774939398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398" }, { "id": "rs774939398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398" }, { "id": "rs774939398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774939398" } ], "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 (NCT->NCK).", "chr_id": "3", "chr_pos": "124796696", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774939398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398" }, { "id": "rs774939398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398" }, { "id": "rs774939398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774939398" } ], "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 (NCT->NCM).", "chr_id": "3", "chr_pos": "124796696", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774939398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398" }, { "id": "rs774939398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774939398" }, { "id": "rs774939398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774939398" } ], "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 (NCT->NCR).", "chr_id": "3", "chr_pos": "124796696", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T462", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P18084-1.460.460", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P18084-1.474.474", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P18084-1.477.477", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.474.474", "start_pos": 474, "end_pos": 474, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778889927", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778889927", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778889927", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778889927", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778889927", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778889927#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778889927", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778889927", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EVGVTYNCTCGCSVGLEPNS", "down_seq": "RCNGSGTYVCGLCECSPGYL", "snv": [ { "evidence": [ { "id": "rs778889927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778889927" }, { "id": "rs778889927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778889927" }, { "id": "rs778889927", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778889927#frequency_tab" }, { "id": "rs778889927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778889927" } ], "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": "3", "chr_pos": "124796661", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778889927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778889927" }, { "id": "rs778889927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778889927" }, { "id": "rs778889927", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778889927#frequency_tab" }, { "id": "rs778889927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778889927" } ], "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": "3", "chr_pos": "124796661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A474", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P18084-1.460.460", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P18084-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P18084-1.477.477", "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": "P18084-1.507.507", "start_pos": 507, "end_pos": 507, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768603511", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768603511", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768603511", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768603511", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768603511", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768603511#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768603511", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768603511", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CECSPGYLGTRCECQDGENQ", "down_seq": "VYQNLCREAEGKPLCSGRGD", "snv": [ { "evidence": [ { "id": "rs768603511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768603511" }, { "id": "rs768603511", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768603511" }, { "id": "rs768603511", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768603511#frequency_tab" }, { "id": "rs768603511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768603511" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->NQR).", "chr_id": "3", "chr_pos": "124796560", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S507", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P18084-1.505.505", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P18084-1.527.527", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.527.527", "start_pos": 527, "end_pos": 527, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1302259766", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302259766", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1302259766", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302259766", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SVYQNLCREAEGKPLCSGRG", "down_seq": "CSCNQCSCFESEFGKIYGPF", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" }, { "id": "rs1302259766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302259766" }, { "id": "rs1302259766", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302259766" } ], "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 (DCS->NCS).", "chr_id": "3", "chr_pos": "124796502", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D527", "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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P18084-1.507.507", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.550.550", "start_pos": 550, "end_pos": 550, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "CNQCSCFESEFGKIYGPFCE", "down_seq": "DNFSCARNKGVLCSGHGECH", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "124796432", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C550", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P18084-1.552.552", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P18084-1.554.554", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "P18084-1.554.554", "start_pos": 554, "end_pos": 554, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2064224353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2064224353", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2064224353", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2064224353#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SCFESEFGKIYGPFCECDNF", "down_seq": "CARNKGVLCSGHGECHCGEC", "snv": [ { "evidence": [ { "id": "rs2064224353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2064224353" }, { "id": "rs2064224353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2064224353#frequency_tab" } ], "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 (NFS->NFF).", "chr_id": "3", "chr_pos": "124796420", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S554", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "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 (NFS->NFY).", "chr_id": "3", "chr_pos": "124796420", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S554", "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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P18084-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P18084-1.552.552", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P18084-1.588.588", "start_pos": 588, "end_pos": 588, "uniprot_canonical_ac": "P18084-1", "length": 799, "uniprot_id": "ITB5_HUMAN", "protein_name": "Integrin beta-5", "refseq_ac": "NP_002204", "refseq_name": "integrin beta-5 isoform a precursor", "gene_name": "ITGB5", "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18084", "url": "https://www.uniprot.org/uniprotkb/P18084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P18084", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs756580962", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756580962", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756580962", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756580962", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756580962", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756580962#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs756580962", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756580962", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ECHCGECKCHAGYIGDNCNC", "down_seq": "TDISTCRGRDGQICSERGHC", "snv": [ { "evidence": [ { "id": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCS->NC*).", "chr_id": "3", "chr_pos": "124773843", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S588", "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": "P18084", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P18084" }, { "id": "rs756580962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756580962" }, { "id": "rs756580962", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756580962" }, { "id": "rs756580962", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756580962#frequency_tab" }, { "id": "rs756580962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756580962" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCL).", "chr_id": "3", "chr_pos": "124773843", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S588", "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": "197", "end_pos": "206" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "705", "end_pos": "705" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "588", "end_pos": "588" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "790", "end_pos": "790" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "759", "end_pos": "759" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "780", "end_pos": "780" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P18084-1.586.586", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P18084-1.605.605", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "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": [] } ] } ]